Abdominal aortic aneurysm facts An aneurysm is an abnormal area of localized widening of a blood vessel. The aorta bulges at the site of an aneurysm like a weak spot on a worn tire. Aortic aneurysms are typically ...

Abdominal aortic aneurysm facts An aneurysm is an abnormal area of localized widening of a blood vessel. The aorta bulges at the site of an aneurysm like a weak spot on a worn tire. Aortic aneurysms are typically ...

Abdominal migraine in children facts Abdominal migraine is believed to be a variant of migraine that is common in children but rare in adults. Abdominal migraine is characterized by pain in the center of the abdomen that m...

Epidermolysis bullosa (EB) is a genetic skin disorder characterized clinically by blister formation from mechanical trauma. There are four main types with additional sub-types identified. There is a spectrum of severity, and within each type, one ...

Epidermolysis bullosa (EB) is a genetic skin disorder characterized clinically by blister formation from mechanical trauma. There are four main types with additional sub-types identified. There is a spectrum of severity, and within each type, one ...

Acanthosis nigricans is a skin condition characterized by areas of dark, velvety discoloration in body folds and creases. The affected skin can become thickened. Most often, acanthosis nigricans affects your armpits, groin and neck. The sk...

Seborrheic Keratosis is a skin disorder usually characterized by discolored lesions that appear to be "stuck on" the skin surface. Warts may appear and skin is often oily or greasy. These skin lesions are sometimes mistaken for cancerous growths a...

Gaucher disease is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase results in the accumulation of harmful quantities of certain fats (lipids), specifically the glycolipid glucocerebroside, throughout the b...

Acne is a skin condition that occurs when your hair follicles become plugged with oil and dead skin cells. It often causes whiteheads, blackheads or pimples, and usually appears on the face, forehead, chest, upper back and shoulders. Acne is most ...

Acne (acne vulgaris, common acne) is a disease of the hair follicles of the face, chest, and back that affects almost all teenagers during puberty -- the only exception being members of a few primitive Neolithic tribes living in isolatio...

An actinic keratosis (ak-TIN-ik ker-uh-TOE-sis) is a rough, scaly patch on your skin that develops from years of exposure to the sun. It's most commonly found on your face, lips, ears, back of your hands, forearms, scalp or neck. Also know...

Classical lissencephaly, also known as lissencephaly type I, is a brain malformation that may occur as an isolated abnormality (isolated lissencephaly sequence [ILS]) or in association with certain underlying syndromes (e.g., Miller-Dieker syndrom...

The term albinism typically refers to oculocutaneous (ok-u-low-ku-TAY-nee-us) albinism (OCA) — a group of inherited disorders where there is little or no production of the pigment melanin. The type and amount of melanin your body produces de...

A prolactinoma is a benign tumor of the pituitary gland (adenoma) that produces an excessive amount of the hormone prolactin. In women, hyperprolactinemia is characterized by irregular menstrual periods (amenorrhea), infertility and production of ...

Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. Ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, is also characteristic of the disorder. This blue-black pigmentatio...

Allergic granulomatosis also known as Eosinophilic granulomatosis with polyangiitis (EGPA, formerly Churg-Strauss Syndro...

What is alpha thalassemia? Alpha thalassemia is a blood disorder that reduces the production of normal hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen to cells throughout the body. What are the types of...

What is sickle cell anemia? Sickle cell anemia (sickle cell disease) is a disorder of the blood caused by an inherited abnormal hemoglobin (the oxygen-carrying protein within the red blood cells). The abnormal hemoglobin causes distorted (...

What is sickle cell anemia? Sickle cell anemia (sickle cell disease) is a disorder of the blood caused by an inherited abnormal hemoglobin (the oxygen-carrying protein within the red blood cells). The abnormal hemoglobin causes distorted (...

Aplasia Cutis Congenita is a rare disorder with a complicated pattern of inheritance. Babies are born with the absence of certain layer(s) of skin, most often on the scalp, but also on the trunk, and/or arms and legs. The affected area is typicall...

General DiscussionArachnoiditis is a disease characterized by an acute inflammatory stage that occurs in the dura (exterior) and the arachnoid (interior), two of the three membranes that cover and protect the brain, the spinal cord and th...

Argininosuccinic aciduria is a rare inherited disorder characterized by deficiency or lack of the enzyme argininosuccinate lyase (ASL). Argininosuccinate lyase is one of six enzymes that play a role in the breakdown and removal of nitrogen from th...

Atopic dermatitis facts Atopic dermatitis is a type of eczema. The disease may be inherited and genetically determined. The patient's skin may be "super sensitive" to many irritants. Dry, scaly patches ...

Attention deficit hyperactivity disorder is a behavioral condition characterized by distractibility, impulsivity, and/or hyperactivity. Although there is no single cause for ADHD, there are a number of biological and social factors ...

Blue rubber bleb nevus syndrome (BRBNS) is a rare blood vessel (vascular) disorder that affects the skin and internal organs of the body. Multiple distinctive skin lesions are usually characteristic of this disorder and are often present at birth ...

Bile duct cancer, also called cholangiocarcinoma, is when unusual cells grow out of control inside your bile ducts. Those are thin tubes about 4 to 5 inches long that move a fluid called bile from your liver to your gallbladder and small intestine...

Bile duct cancer, also called cholangiocarcinoma, is when unusual cells grow out of control inside your bile ducts. Those are thin tubes about 4 to 5 inches long that move a fluid called bile from your liver to your gallbladder and small intestine...

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Bloom syndrome is a rare genetic disorder characterized by short stature; increased sensitivity to light (photosensitivity); multiple small dilated blood vessels on the face (facial telangiectasia), often resembling a butterfly in shape; immune de...

Blue rubber bleb nevus syndrome (BRBNS) is a rare blood vessel (vascular) disorder that affects the skin and internal organs of the body. Multiple distinctive skin lesions are usually characteristic of this disorder and are often present at birth ...

Bocavirus is a virus that causes the common cold and other respiratory infections. Cold, fever, runny nose, and cough are the most common symptoms. It can also cause gastroenteritis, or stomach flu, which can cause severe stomach and intestine irr...

Boil  A boil is a painful, pus-filled bump under your skin — the result of a bacterial infection of one or more hair follicles. Carbuncle  A carbuncle is a cluster of boils — painful, pus-filled bumps ...

Bowen disease is a rare skin disorder. Affected individuals develop a slow-growing, reddish scaly patch or plaque on the skin. Sun exposed areas of the skin are most often affected. Bowen disease only affects the outermost layer of the skin (epide...

Turcot syndrome is a rare inherited disorder characterized by the association of benign growths (adenomatous polyps) in the mucous lining of the gastrointestinal tract with tumors of the central nervous system. Symptoms associated with polyp forma...

Branchio-oculo-facial syndrome (BOFS) is a very rare genetic disorder that is apparent at birth (congenital). As of 2004, only about 50 cases of BOFS had been reported in the medical literature. The symptoms of most BOFS patients include the proli...

Acrodermatitis enteropathica (AE) is a disorder of zinc metabolism that occurs in one of two forms: an inborn (congenital) form and an acquired form. The inborn form of AE is a rare genetic disorder characterized by intestinal abnormalities that l...

Breast cancer is cancer that forms in the cells of the breasts. ...

Breast cancer is the most common cancer in pregnant women and tends to affect women in their mid-30s. Although only about 1 in every 1,000 pregnant women get breast cancer, the disease can be devastating to both the mother and her child -- so it i...

Younger women generally do not consider themselves to be at risk for breast cancer. Only 5 percent of all breast cancer cases occur in women under 40 years old. However, breast cancer can strike at any age, and all women should be aware of their p...

Introduction to Breast Cancer Recurrence Breast cancer can recur at any time, but most recurrences occur in the first three to five years after initial treatment. Breast cancer can come back as a local recurrence (in the treated breast or ...

Introduction to Breast Cancer Recurrence Breast cancer can recur at any time, but most recurrences occur in the first three to five years after initial treatment. Breast cancer can come back as a local recurrence (in the treated breast or ...

Facing a breast cancer diagnosis can be overwhelming. Your stress levels may skyrocket. You may worry about finances. And you may be asking yourself difficult questions, such as whether to write a living will. Education and supportive care can hel...

Facing a breast cancer diagnosis can be overwhelming. Your stress levels may skyrocket. You may worry about finances. And you may be asking yourself difficult questions, such as whether to write a living will. Education and supportive care can hel...

Bullous pemphigoid is an uncommon skin disease characterized by tense blisters on the surface of the skin. Occasionally, the inner lining tissue of the mouth, nasal passages, or conjunctivae of the eyes (mucous membrane tissue) can be involved. Th...

Campomelic dysplasia is a severe disorder that affects the development of the skeleton and reproductive system. This condition is often life-threatening in the newborn period. The term "campomelic" comes from the Greek words for "bent limb." Affec...

Pinta is a rare infectious tropical disease affecting the skin that is caused by the bacterium Treponema carateum, which is transmitted by direct, nonsexual contact. Pinta progresses through three distinct stages, which are characterized by variou...

Chanarin Dorfman syndrome is a rare hereditary disorder of fat (lipid) metabolism. It is characterized by scaly skin (ichthyosis), degeneration of the muscles (myopathy), and abnormal white blood cells with small spaces (vacuoles) filled with fat ...

Chediak-Higashi syndrome (CHS) is a rare, inherited, complex, immune disorder of childhood (usually) characterized by abnormally pale skin and eyes (oculocutaneous albinism). Because the patient's white blood cells (leukocytes) are profoundly affe...

Chediak-Higashi syndrome (CHS) is a rare, inherited, complex, immune disorder of childhood (usually) characterized by abnormally pale skin and eyes (oculocutaneous albinism). Because the patient's white blood cells (leukocytes) are profoundly affe...

Hajdu-Cheney syndrome (HCS) is a rare, heritable disorder of connective tissue; only about 50 cases have been reported in the medical literature. The breakdown of bone (osteolysis), especially the outermost bones of the fingers and toes (acroosteo...

Chilblains (CHILL-blayns) are the painful inflammation of small blood vessels in your skin that occur in response to repeated exposure to cold but not freezing air. Also known as pernio, chilblains can cause itching, red patches, swelling and blis...

CHILD syndrome (an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects) is an inherited disorder, affecting primarily women, that is characterized by ichthyosis-like skin abnormalities and limb defects on one side...

CHILD syndrome (an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects) is an inherited disorder, affecting primarily women, that is characterized by ichthyosis-like skin abnormalities and limb defects on one side...

Childhood acute lymphoblastic leukemia (ALL) is a type of cancer in which the bone marrow makes too many immature lymphocytes (a type of white blood cell). Childhood acute lymphoblastic leukemia (also called acute lymphocytic leukemia or A...

An epidemic is defined as occurring when "new cases of a certain disease, in a given human population during a given time period, substantially exceed what is expected based upon recent experience." Pediatric obesity has reached epidemic proportio...

Cleft lip and palate are developmental defects of the upper lip and roof of the mouth that are present at birth (congenital malformations). Cleft lip and palate may occur separately and in combination. Both malformations o...

General DiscussionWildervanck syndrome, also known as cervicooculoacoustic syndrome, is a rare genetic disorder that primarily affects females. The disorder is characterized by a skeletal condition known as Klippel-Feil syndrome (KFS); ab...

Haim-Munk syndrome is a rare genetic disorder characterized by the development of red, scaly thickened patches of skin on the palms of the hands and soles of the feet (palmoplantar hyperkeratosis), frequent pus-producing (pyogenic) skin infections...

Cold antibody hemolytic anemia (CAHA) is a rare autoimmune disorder characterized by the premature destruction of red blood cells (rbcs) by the body's natural defenses against invading organisms (antibodies). Normally, the red blood cells have a l...

Colitis means inflammation of the colon. The colon, also known as the large intestine or large bowel, constitutes the last part of the digestive tract. The colon is a long, muscular tube that receives digested food from the small intestine. It rem...

Collagenous colitis is a rare digestive disorder that primarily affects females and typically becomes apparent during middle age. The disorder is characterized by inflammatory changes of the mucous membranes (mucosa) of the colon (colitis) and abn...

Ulcerative colitis (UL-sur-uh-tiv koe-LIE-tis) is an inflammatory bowel disease ...

Ulcerative colitis (UL-sur-uh-tiv koe-LIE-tis) is an inflammatory bowel disease (IBD) that causes inflammation and ulcers (sores) in your digestive tract. Ulcerative colitis affects the innermost lining of your large intestine (colon) and rectum. ...

Mixed connective tissue disease facts Connective tissues are the framework of the cells of the body. Mixed connective tissue disease is an "overlap" combination of connective tissue diseases. Diagnosis of mixed c...

Contact dermatitis facts Contact dermatitis is a rash that occurs at the site of exposure to a substance capable of producing an allegic or irritant skin response. Contact dermatitis can be caused by noxious, irritating su...

Cradle cap causes crusty or oily scaly patches on a baby's scalp. The condition isn't painful or itchy. But it can cause thick white or yellow scales that aren't easy to remove. Cradle cap usually clears up on its own in a few months. Home...

Crohn's disease facts Crohn's disease is a chronic inflammatory disease of the intestines. The cause of Crohn's disease is unknown. Crohn's disease can cause ulcers in the small intestine, colon, or both. ...

Oculocerebral Syndrome with Hypopigmentation is an extremely rare inherited disorder characterized by the lack of normal color (hypopigmentation) of the skin and hair and abnormalities of the central nervous system that affect the eyes and certain...

Gianotti-Crosti Syndrome is a rare skin disease affecting children between the ages of nine months and nine years. Major symptoms may include blisters on the skin of the legs, buttocks and arms. The disorder is usually preceded by a viral infectio...

Mixed cryoglobulinemia is a rare disorder characterized by the presence of cryoglobulins in the blood. Cryoglobulins are abnormal proteins that thicken and clump together at cold temperatures, usually below 98.6 degrees Fahrenheit (the average hum...

Fraser syndrome is a rare genetic disorder characterized by partial webbing of the fingers and/or toes (partial syndactyly), kidney (renal) abnormalities, genital malformations, and/or, in some cases, complete fusion of the eyelids (cryptophthalmo...

Cutis laxa is rarely encountered and may occur in several inherited (congenital) forms or come about in the course of another disorder (acquired). It is a connective tissue disorder characterized by skin that is loose (lax), hanging, wrinkled, and...

De Barsy syndrome is a rare, autosomal recessive genetic disorder, the main characteristics of which are a prematurely aged-looking face (progeria), cloudy corneas, short stature, and mental retardation. The condition is expressed in variable pres...

Cyst facts Cysts are closed sac-like or capsule structures that may be filled with semisolid material, gaseous material, or liquid. There are several causes of cysts, including genetic, infectious, and other causes that resu...

Keratosis follicularis, also known as Darier disease, is a rare, genetic skin disorder. Affected individuals develop skin lesions that consist of thickened, rough bumps (papules) or plaques that may also be greasy or have a brown or yellow crust. ...

De Barsy syndrome is a rare, autosomal recessive genetic disorder, the main characteristics of which are a prematurely aged-looking face (progeria), cloudy corneas, short stature, and mental retardation. The condition is expressed in variable pres...

De Barsy syndrome is a rare, autosomal recessive genetic disorder, the main characteristics of which are a prematurely aged-looking face (progeria), cloudy corneas, short stature, and mental retardation. The condition is expressed in variable pres...

De Sanctis-Cacchione syndrome is an extremely rare disorder characterized by the skin and eye symptoms of xeroderma pigmentosum (XP) occurring in association with neurological abnormalities, mental retardation, unusually short stature (dwarfism), ...

General DiscussionJervell and Lange-Nielsen syndrome (JLNS) is a rare inherited disorder characterized by deafness present at birth (congenital) occurring in association with abnormalities affecting the electrical system of the heart. The...

Peeling skin syndrome is a rare inherited skin disorder characterized by painless, continual, spontaneous skin peeling (exfoliation). Other findings may include blistering and/or reddening of the skin (erythema) and itching (pruritus). Peeling ski...

Degos disease is a very rare disease in which small and medium-sized arteries become blocked, preventing proper blood flow to the affected areas. You may also develop skin lesions, which can last from weeks to years depending on the extent of the ...

Degos disease is an extremely rare disorder in which small and medium sized arteries become blocked (occlusive arteriopathy), restricting the flow of blood to affected areas. Degos disease usually causes characteristic skin lesions that may last f...

Diabetes and foot problems facts Two main conditions, peripheral artery disease (PAD) and peripheral neuropathy, are responsible for the increased risk of foot problems in people with diabetes. People with diabetes have an...

Urine tests for diabetes facts Urine tests may be done in people with diabetes to evaluate severe hyperglycemia (severe high blood sugar) by looking for ketones in the urine. Ketones are a metabolic product produced when fat...

Urine tests for diabetes facts Urine tests may be done in people with diabetes to evaluate severe hyperglycemia (severe high blood sugar) by looking for ketones in the urine. Ketones are a metabolic product produced when fat...

Bejel is an infectious disease that is rare in the United States but common in certain parts of the world. The infection is very similar to syphilis but is not sexually transmitted. Most frequently, transmission is by means of non-sexual skin cont...

Sjogren-Larsson syndrome is an inherited disorder characterized by scaling skin (ichthyosis), mental retardation, speech abnormalities, and spasticity. Affected infants develop various degrees of reddened skin with fine scales soon after birth. Af...

CHILD syndrome (an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects) is an inherited disorder, affecting primarily women, that is characterized by ichthyosis-like skin abnormalities and limb defects on one side...

Harlequin ichthyosis is a rare genetic skin disorder. The newborn infant is covered with plates of thick skin that crack and split apart. The thick plates can pull at and distort facial features and can restrict breathing and eating. Harlequin inf...

Ichthyosis hystrix, Curth-Macklin type is a rare inherited skin disorder. It is characterized by scaling skin (ichthyosis) ranging from mild to severe. The patches of scaly, thickened skin range from spotty to severe, and may appear on almost any ...

Chanarin Dorfman syndrome is a rare hereditary disorder of fat (lipid) metabolism. It is characterized by scaly skin (ichthyosis), degeneration of the muscles (myopathy), and abnormal white blood cells with small spaces (vacuoles) filled with fat ...

Dry skin facts Dry skin is a very common condition that causes small fine flakes and dry patches. Itching is one of the most common symptoms of dry skin. Scratching may be hard to resist. Dry skin is mo...

Frey syndrome is a rare disorder that most often occurs as a result of surgery in the area near the parotid glands. The parotid glands are the largest salivary glands in the body located just below the ears on either side of the face. The main sym...

Dyschondrosteosis is a very rare inherited disorder characterized by unusually shortened, bowed bones in the forearms (radius and ulna), abnormal deviation of the wrist toward the thumb side of the hand due to shortening of the radius and dislocat...

Dyskeratosis congenita is a rare genetic form of bone marrow failure, the inability of the marrow to produce sufficient blood cells. Dyskeratosis is Latin and means the irreversible degeneration of skin tissue, and congenita means inborn. First de...

Dyskeratosis congenita is a rare genetic form of bone marrow failure, the inability of the marrow to produce sufficient blood cells. Dyskeratosis is Latin and means the irreversible degeneration of skin tissue, and congenita means inborn. First de...

Dyskeratosis congenita is a rare genetic form of bone marrow failure, the inability of the marrow to produce sufficient blood cells. Dyskeratosis is Latin and means the irreversible degeneration of skin tissue, and congenita means inborn. First de...

Dyskeratosis congenita is a rare genetic form of bone marrow failure, the inability of the marrow to produce sufficient blood cells. Dyskeratosis is Latin and means the irreversible degeneration of skin tissue, and congenita means inborn. First de...

Keratosis follicularis, also known as Darier disease, is a rare, genetic skin disorder. Affected individuals develop skin lesions that consist of thickened, rough bumps (papules) or plaques that may also be greasy or have a brown or yellow crust. ...

Ehlers-Danlos syndrome (EDS) is a group of hereditary connective tissue disorders characterized by defects of the major structural protein in the body (collagen). Collagen, a tough, fibrous protein, plays an essential role in holding together, str...

Johanson-Blizzard syndrome (JBS) is an extremely rare genetic disorder that affects multiple organ systems of the body. Many symptoms are present at birth (congenital) or early childhood. The spectrum of potential features and physical findings as...

Eczema facts Eczema is not a single disease but a reaction pattern of the skin produced by a number conditions. Atopic dermatitis, a common causes of eczema, is more prevalent in those with asthma and hay fever. ...

Ectrodactyly ectodermal dysplasia cleft lip/palate (EEC) syndrome is a rare genetic disorder. Symptoms can vary greatly from one person to another. Affected individuals often have abnormalities affecting the limbs including ectrodactyly, a conditi...

Ehlers-Danlos syndrome (EDS) is a group of hereditary connective tissue disorders characterized by defects of the major structural protein in the body (collagen). Collagen, a tough, fibrous protein, plays an essential role in holding together, str...

Pinta is a rare infectious tropical disease affecting the skin that is caused by the bacterium Treponema carateum, which is transmitted by direct, nonsexual contact. Pinta progresses through three distinct stages, which are characterized by variou...

Atrioventricular septal defect (ASVD) is a general term for a group of rare heart defects that are present at birth (congenital). Infants with ASVDs have improperly developed atrial and ventricular septa and adjoining valves. The norma...

Endocardial fibroelastosis (EFE) is a rare heart disorder that affects infants and children. It is characterized by a thickening within the muscular lining of the heart chambers due to an increase in the amount of supporting connective tissue (ine...

Carcinoid syndrome is a disease consisting of a combination of symptoms, physical manifestations, and abnormal laboratory findings. Carcinoid syndrome is seen in individuals who have an underlying carcinoid tumour with spread to the liver. Carcino...

Epidermolysis bullosa (ep-ih-dur-MOL-uh-sis buhl-LOE-sah) is a group of rare diseases that cause fragile, blistering skin. The blisters may appear in response to minor injury, even from heat, rubbing, scratching or adhesive tape. In severe cases, ...

Epidermolysis bullosa (EB) is a genetic skin disorder characterized clinically by blister formation from mechanical trauma. There are four main types with additional sub-types identified. There is a spectrum of severity, and within each type, one ...

Epidermolytic ichthyosis (EI) specifically refers to a hereditary skin disorder that is characterized by varying degrees of blistering and subsequent reactive scaling of the skin. The underlying histopathology shows mid-epidermal splitting and hyp...

Tuberous sclerosis is a rare genetic multisystem disorder that is typically apparent shortly after birth. The disorder may be characterized by episodes of uncontrolled electrical activity in the brain (seizures); mental retardation; distinctive sk...

Until recently the relationship of Stevens-Johnson syndrome to other severe blistering disorders was a matter of some debate. Now a consensus seems to be evolving that describes SJS as a rare disorder involving lesions of the mucous membranes alon...

Erythema nodosum is a type of skin inflammation that is located in a certain portion of the fatty layer of skin. Erythema nodosum (also called EN) results in reddish, painful, tender lumps most commonly located in the front of the legs below the k...

Erythromelalgia is a rare condition that primarily affects the feet and, less commonly, the hands (extremities). It is characterized by intense, burning pain of affected extremities, severe redness (erythema), and increased skin temperature that m...

Erythrokeratolysis hiemalis is an extremely rare form of ichthyosis that was first described in South Africa but has subsequently been identified in other countries. In such cases, a link to South Africa has been determined. The disorder is charac...

Erythropoietic protoporphyria (EPP) is a rare inherited metabolic disorder characterized by a deficiency of the enzyme ferrochelatase (FECH). Due to abnormally low levels of this enzyme, excessive amounts of protoporphyrin accumulate in the bone m...

Fabry disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids. The enzyme is known as ceramide trihexosidase, also called alpha-galactosidase-A. A mutation in the...

IRF6-related disorders include a spectrum of disorders caused by abnormalities in the interferon regulatory factor 6 (IRF6) gene. Van der Woude syndrome (VWS) is at the mild end of the spectrum and popliteal pterygium syndrome (PPS) is at the seve...

Peeling skin syndrome is a rare inherited skin disorder characterized by painless, continual, spontaneous skin peeling (exfoliation). Other findings may include blistering and/or reddening of the skin (erythema) and itching (pruritus). Peeling ski...

Familial eosinophilic cellulitis is a rare skin disorder. It is characterized by raised, red, swollen, and warm areas of skin, in a flame-shaped pattern with associated pain. The exact cause of the disease is unknown. However, bites of spiders, be...

Gilbert syndrome is a mild genetic liver disorder in which the body cannot properly process bilirubin, a yellowish waste product that is formed when old or worn out red blood cells are broken down (hemolysis). Individuals with Gilbert syndrome hav...

Familial lipoprotein lipase (LPL) deficiency is a rare genetic metabolic disorder characterized by a deficiency of the enzyme lipoprotein lipase. The deficiency of this enzyme prevents affected individuals from properly digesting certain fats and ...

Factor XIII deficiency is a rare, genetic bleeding disorder characterized by a deficiency of clotting factor XIII. Clotting factors are specialized proteins that are essential for the blood to clot properly. Specifically, individuals with factor X...

Focal dermal hypoplasia (FDH), also known as Goltz syndrome, is a rare skin disorder that can also affect bone and eye development. If is a type of ectodermal dysplasia, a group of heritable disorders causing the hair, teeth, nails, and glands to ...

Focal dermal hypoplasia (FDH), also known as Goltz syndrome, is a rare skin disorder that can also affect bone and eye development. If is a type of ectodermal dysplasia, a group of heritable disorders causing the hair, teeth, nails, and glands to ...

Folliculitis facts Folliculitis is a very common, benign skin disorder that appears as pinpoint red bumps sometimes with a small dot of pus at the top. Folliculitis affects people of all ages, from babies to seniors. ...

Formaldehyde Poisoning is a disorder brought about by breathing the fumes of formaldehyde. This can occur while working directly with formaldehyde, or using equipment cleaned with formaldehyde. Major symptoms may include eye, nose, and throat irri...

Formaldehyde Poisoning is a disorder brought about by breathing the fumes of formaldehyde. This can occur while working directly with formaldehyde, or using equipment cleaned with formaldehyde. Major symptoms may include eye, nose, and throat irri...

Fountain syndrome is an extremely rare inherited disorder that is characterized by mental retardation; abnormal swelling of the cheeks and lips due to the excessive accumulation of body fluids under the skin (subcutaneous) of the face (edema); ske...

Fox-Fordyce disease is a rare skin disorder that primarily affects women. The disorder is characterized by intense itching especially in the underarm area, the pubic area and around the nipples. In Fox-Fordyce disease abnormalities affecting the a...

Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency (G6PDD) is an inherited, sex-linked, metabolic disorder characterized by an enzyme defect that leads to the breakdown of red blood cells (hemolysis) upon exposure to stresses associated with some...

Hypogammaglobulinemia is a problem with the immune system that prevents it from making enough antibodies called immunoglobulins. Antibodies are proteins that help your body recognize and fight off foreign invaders like bacteria, viruses, and fungi...

Gangrene facts Gangrene refers to dead or dying body tissue(s) that occur because of inadequate blood supply. There are two major types of gangrene, wet gangrene and dry gangrene. Dry gangrene can result from con...

Erythrokeratodermia with ataxia (EKDA) is a hereditary disorder of the skin and nervous system (neurocutaneous syndrome) characterized by groups of hard, red plaques that develop during infancy and childhood. When these skin lesions heal, the diso...

Fabry disease is a rare genetic disorder of fat (lipid) metabolism characterized by a deficiency of the enzyme alpha-galactosidase A (previously known as ceramide trihexosidase). The disorder belongs to a group of diseases known as lysosomal stora...

Familial eosinophilic cellulitis is a rare skin disorder. It is characterized by raised, red, swollen, and warm areas of skin, in a flame-shaped pattern with associated pain. The exact cause of the disease is unknown. However, bites of spiders, be...

Grover's disease is a rare, transient skin disorder that consists of small, firm, raised red lesions, most often on the skin of the chest and back. Diagnosis of this disorder becomes apparent under microscopic examination when the loss of the "cem...

Lichen sclerosus is a chronic skin disorder that most commonly affects post-menopausal women. However, it is sometimes identified among pre-menopausal women, and, even more rarely, among males. When found in males, the disease is known as balaniti...

Lichen sclerosus is a chronic skin disorder that most commonly affects post-menopausal women. However, it is sometimes identified among pre-menopausal women, and, even more rarely, among males. When found in males, the disease is known as balaniti...

Gottron syndrome (GS) is an extremely rare inherited disorder characterized by the appearance of premature aging (progeria), especially in the form of unusually fragile, thin skin on the hands and feet (distal extremities). GS is described as a mi...

Epidermolysis bullosa (EB) is a genetic skin disorder characterized clinically by blister formation from mechanical trauma. There are four main types with additional sub-types identified. There is a spectrum of severity, and within each type, one ...

Harlequin ichthyosis is a rare genetic skin disorder. The newborn infant is covered with plates of thick skin that crack and split apart. The thick plates can pull at and distort facial features and can restrict breathing and eating. Harlequin inf...

Paroxysmal cold hemoglobinuria (PCH) is a rare type of anemia characterized by the premature destruction of healthy red blood cells by autoantibodies. The disorder is classified as an autoimmune hemolytic anemia (AIHA), an uncommon group of disord...

Hartnup disease is a rare metabolic disorder inherited as an autosomal recessive trait. It involves an inborn error of amino acid metabolism as well as niacin deficiency. Factors that may precipitate acute attacks of this disorder may include poor...

Hartnup disease is a rare metabolic disorder inherited as an autosomal recessive trait. It involves an inborn error of amino acid metabolism as well as niacin deficiency. Factors that may precipitate acute attacks of this disorder may include poor...

Hashimoto's thyroiditis is also known as Chronic Lymphocytic Thyroiditis, Hashimoto's Thyroiditis, and Chronic Autoimmune Thyroiditis. The thyroid gland gradually stops producing enough hormones to keep the body running normally as a result of Has...

Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome, is a rare inherited disorder that belongs to a group of disorders known as the ectodermal dysplasias. Major characteristics of Hay-Wells syndrome inclu...

A hematoma is a collection of blood outside of a blood vessel. Symptoms of hematomas depend upon their location and whether adjacent structures are affected by the inflammation and swelling associated with the bleeding. Tr...

Hepatorenal syndrome (HRS) is a form of impaired kidney function that occurs in individuals with advanced liver disease. Individuals with hepatorenal syndrome do not have any identifiable cause of kidney dysfunction and the kidneys themselves are ...

Hereditary spherocytic hemolytic anemia is a rare blood disorder characterized by defects within red blood cells (intracorpuscular) that result in a shortened survival time for these cells. Red blood cells (erythrocytes) normally circulate for a f...

Langerhans cell histiocytosis (LCH) is a spectrum of rare disorders characterized by overproduction (proliferation) and accumulation of a specific type of white blood cell (histiocyte) in the various tissues and organs of the body (lesions). The l...

Papular urticaria, usually called hives, is characterized by large numbers of very itchy red bumps (papules) that come and go every few days over a period of a month or so. The bumps are usually between 0.2 and 2 cm. in size and some may develop i...

Biotinidase deficiency (BTD) is a treatable, metabolic disorder that is the result of a low concentration, or complete lack, of the enzyme, biotinidase. Biotinidase deficiency is an inherited disorder in which the body is not able to properly proc...

Alkaptonuria is a rare genetic metabolic disorder characterized by the accumulation of homogentisic acid in the body. Affected individuals lack enough functional levels of an enzyme required to breakdown homogentisic acid. Affected individuals may...

Human Immunodeficiency Virus (HIV) is a virus that attacks the immune system, specifically targeting CD4 cells (T cells), which help the body fight off infections. If left untreated, HIV can lead to the disease known as Acquired Immunodeficiency S...

Hyperlipoproteinemia type III, also known as dysbetalipoproteinemia or broad beta disease, is a rare genetic disorder characterized by improper breakdown (metabolism) of certain fatty materials known as lipids, specifically cholesterol and triglyc...

Familial lipoprotein lipase (LPL) deficiency is a rare genetic metabolic disorder characterized by a deficiency of the enzyme lipoprotein lipase. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats and resu...

Hypoglycemia is the clinical syndrome that results from low blood sugar. The symptoms of hypoglycemia can vary from person to person, as can the severity. Classically, hypoglycemia is diagnosed by a low blood sugar with symptoms that resolve when ...

General DiscussionHypoplastic left heart syndrome is a term used to describe a group of closely related rare heart defects that are present at birth (congenital). The normal heart has four chambers. The two upper chambers, known as atria,...

Thyroid disease is particularly common in women of child-bearing age. As a result, it is no surprise that thyroid disease may complicate the course of pregnancy. Frequency varies among different populations and different c...

Chanarin Dorfman syndrome is a rare hereditary disorder of fat (lipid) metabolism. It is characterized by scaly skin (ichthyosis), degeneration of the muscles (myopathy), and abnormal white blood cells with small spaces (vacuoles) filled with fat ...

Ichthyosis is a general term for a family of rare genetic skin diseases characterized by dry, thickened, scaling skin. The various forms are distinguished from one another by: 1) extent of the scaling and how widely and where the scaling is scatte...

CHILD syndrome (an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects) is an inherited disorder, affecting primarily women, that is characterized by ichthyosis-like skin abnormalities and limb defects on one side...

Lamellar ichthyosis is a rare genetic skin disorder. In lamellar ichthyosis, the skin cells are produced at a normal rate, but they do not separate normally at the surface of the outermost layer of skin (stratum corneum) and are not shed as quickl...

Erythrokeratolysis hiemalis is an extremely rare form of ichthyosis that was first described in South Africa but has subsequently been identified in other countries. In such cases, a link to South Africa has been determined. The disorder is charac...

Harlequin ichthyosis is a rare genetic skin disorder. The newborn infant is covered with plates of thick skin that crack and split apart. The thick plates can pull at and distort facial features and can restrict breathing and eating. Harlequin inf...

Harlequin ichthyosis is a rare genetic skin disorder. The newborn infant is covered with plates of thick skin that crack and split apart. The thick plates can pull at and distort facial features and can restrict breathing and eating. Harlequin inf...

Ichthyosis hystrix, Curth-Macklin type is a rare inherited skin disorder. It is characterized by scaling skin (ichthyosis) ranging from mild to severe. The patches of scaly, thickened skin range from spotty to severe, and may appear on almost any ...

Epidermal nevus syndromes (ENSs) are a group of rare complex disorders characterized by the presence of skin lesions known as epidermal nevi associated with additional extra-cutaneous abnormalities, most often affecting the brain, eye and skeletal...

Keratosis follicularis spinulosa decalvans (KFSD) is a rare, inherited, skin disorder that affects men predominately and is characterized by hardening of the skin (keratosis) in several parts of the body. Most frequently, the face, neck, and forea...

Lamellar ichthyosis is a rare genetic skin disorder. In lamellar ichthyosis, the skin cells are produced at a normal rate, but they do not separate normally at the surface of the outermost layer of skin (stratum corneum) and are not shed as quickl...

Netherton syndrome is a rare hereditary disorder characterized by scaling skin, hair anomalies, increased susceptibility to atopic eczema (a skin condition that can result in dry, red and flaky skin), elevated IgE levels, and other related symptom...

Sjogren-Larsson syndrome is an inherited disorder characterized by scaling skin (ichthyosis), mental retardation, speech abnormalities, and spasticity. Affected infants develop various degrees of reddened skin with fine scales soon after birth. Af...

Sjogren-Larsson syndrome is an inherited disorder characterized by scaling skin (ichthyosis), mental retardation, speech abnormalities, and spasticity. Affected infants develop various degrees of reddened skin with fine scales soon after birth. Af...

Ichthyosis vulgaris (ik-thee-O-sis vul-GAY-ris) is an inherited skin disorder in which dead skin cells accumulate in thick, dry scales on your skin's surface. The scales of ichthyosis vulgaris, sometimes called fish scale disease or fish s...

X-linked ichthyosis is a genetic skin disorder that affects males. It is an inborn error of metabolism characterized by a deficiency of the enzyme steroid sulfatase. Under normal conditions, this enzyme breaks down (metabolizes) cholesterol sulfat...

Chanarin Dorfman syndrome is a rare hereditary disorder of fat (lipid) metabolism. It is characterized by scaly skin (ichthyosis), degeneration of the muscles (myopathy), and abnormal white blood cells with small spaces (vacuoles) filled with fat ...

The WAS-related disorders are a spectrum of conditions affecting the immune system that are caused by mutations in the WAS gene. These disorders include Wiskott-Aldrich syndrome, X-linked thrombocytopenia and X-linked congenital neutropenia. The W...

Agammaglobulinemia is a group of inherited immune deficiencies characterized by a low concentration of antibodies in the blood due to the lack of particular lymphocytes in the blood and lymph. Antibodies are proteins (immunoglobulins, (IgM), (IgG)...

Incontinentia Pigmenti (IP) is a rare genetic dermatological disorder affecting the skin, hair, teeth, and central nervous system. Progressive skin changes occur in four stages, the first of which appear in early infancy or can be present at birth...

Apnea is a term used to describe the temporary absence of spontaneous breathing. Infantile apnea occurs in children under the age of one year. Apnea may occur because of neurological impairment of the respiratory rhythm or obstruction of air flow ...

Congenital generalized fibromatosis (CGF) is a pediatric condition that is often now referred to as "infantile myofibromatosis" (IM). It is characterized by the formation of single or multiple noncancerous (benign) tumors that appear to be derived...

Infant respiratory distress syndrome is a lung disorder that tends to affect premature infants. Major symptoms include difficulty in breathing and collapsed lungs, potentially requiring mechanical ventilation or positive end-expiratory pressure (P...

Apnea is a term used to describe the temporary absence of spontaneous breathing. Infantile apnea occurs in children under the age of one year. Apnea may occur because of neurological impairment of the respiratory rhythm or obstruction of air flow ...

Inflammatory breast cancer is a rare form of breast cancer. It is typically a very aggressive disease and is called "inflammatory" because the cancer cells block the lymphatic vessels, resulting in changes in the breast (swelling and redness) that...

Insulin is a hormone that is produced by the beta cells of the pancreas. These cells are scattered throughout the pancreas in small clusters known as the islets of Langerhans. The insulin produced is released into the blood stream and travels thro...

Intertrigo is a dermatitis that only affects skin folds. Intertrigo is caused when skin is irritated by friction, which is enhanced by moisture and heat. Risk factors for intertrigo include obesity, heat, and humidity....

Hypomelanosis of Ito is a rare condition characterized by distinctive skin changes, in which areas of the body lack skin color (hypopigmentation). These skin changes may present as patches, streaks or spiral-shaped (whorled) areas. In many cases, ...

General DiscussionIvemark syndrome is a rare disorder that affects multiple organ systems of the body. It is characterized by the absence (asplenia) or underdevelopment (hypoplasia) of the spleen, malformations of the heart and the abnorm...

Jessner lymphocytic infiltrate of the skin is an uncommon disorder that is characterized by benign accumulations of lymph cells in the skin. These small lesions are solid, pink or red in color, and appear on the face, neck, and/or back. Skin surro...

Jock itch facts Jock itch is a very common groin rash. Roughly half of jock itch is due to fungus. The remainder is caused by moisture, irritation, and bacterial overgrowth. Symptoms and signs of jock itch includ...

Until recently the relationship of Stevens-Johnson syndrome to other severe blistering disorders was a matter of some debate. Now a consensus seems to be evolving that describes SJS as a rare disorder involving lesions of the mucous membranes alon...

A keloid scar forms from abnormal healing, and usually develops in people 10 to 20 years old. A keloid, or keloid scar, is a kind of overgrown scar, or an overly aggressive healing response to a wound. It's a type of thick, irregul...

Keratitis ichthyosis deafness (KID) syndrome is a rare, genetic, multi-system disorder. It is characterized by defects of the surface of the corneas (keratitis), red, rough thickened plaques of skin (erythrokeratoderma) and sensorineural deafness ...

Epidermolysis bullosa (EB) is a genetic skin disorder characterized clinically by blister formation from mechanical trauma. There are four main types with additional sub-types identified. There is a spectrum of severity, and within each type, one ...

Erythrokeratolysis hiemalis is an extremely rare form of ichthyosis that was first described in South Africa but has subsequently been identified in other countries. In such cases, a link to South Africa has been determined. The disorder is charac...

Keratosis follicularis, also known as Darier disease, is a rare, genetic skin disorder. Affected individuals develop skin lesions that consist of thickened, rough bumps (papules) or plaques that may also be greasy or have a brown or yellow crust. ...

Meleda disease is an extremely rare inherited skin disorder characterized by the slowly progressive development of dry, thick patches of skin on the palms of the hands and soles of the feet (palmoplantar hyperkeratosis). Affected skin may be unusu...

Haim-Munk syndrome is a rare genetic disorder characterized by the development of red, scaly thickened patches of skin on the palms of the hands and soles of the feet (palmoplantar hyperkeratosis), frequent pus-producing (pyogenic) skin infections...

Keratosis pilaris (KP) facts Keratosis pilaris is a very common, benign skin disorder that affects adolescents and adults. Keratosis pilaris causes numerous small, rough, tan or red little bumps around hair follicles on th...

Keratitis ichthyosis deafness (KID) syndrome is a rare, genetic, multi-system disorder. It is characterized by defects of the surface of the corneas (keratitis), red, rough thickened plaques of skin (erythrokeratoderma) and sensorineural deafness ...

The Course of Kidney Disease Diabetic kidney disease takes many years to develop. In some people, the filtering function of the kidneys is actually higher than normal in the first few years of their diabetes. Over several years, pe...

Epidermolysis bullosa (EB) is a genetic skin disorder characterized clinically by blister formation from mechanical trauma. There are four main types with additional sub-types identified. There is a spectrum of severity, and within each type, one ...

Degos disease is an extremely rare disorder in which small and medium sized arteries become blocked (occlusive arteriopathy), restricting the flow of blood to affected areas. Degos disease usually causes characteristic skin lesions that may last f...

Oculocerebral Syndrome with Hypopigmentation is an extremely rare inherited disorder characterized by the lack of normal color (hypopigmentation) of the skin and hair and abnormalities of the central nervous system that affect the eyes and certain...

Lamellar ichthyosis is a rare genetic skin disorder. In lamellar ichthyosis, the skin cells are produced at a normal rate, but they do not separate normally at the surface of the outermost layer of skin (stratum corneum) and are not shed as quickl...

Lamellar ichthyosis is a rare genetic skin disorder. In lamellar ichthyosis, the skin cells are produced at a normal rate, but they do not separate normally at the surface of the outermost layer of skin (stratum corneum) and are not shed as quickl...

Langerhans cell histiocytosis (LCH) is a spectrum of rare disorders characterized by overproduction (proliferation) and accumulation of a specific type of white blood cell (histiocyte) in the various tissues and organs of the body (lesions). The l...

Langerhans cell histiocytosis (LCH) is a spectrum of rare disorders characterized by overproduction (proliferation) and accumulation of a specific type of white blood cell (histiocyte) in the various tissues and organs of the body (lesions). The l...

Latex allergy facts Latex allergy is dramatically on the rise throughout the world. Latex allergy rises with exposure and is suspected to continue to rise until a latex substitute is found. Latex allergy can be s...

Madelung's disease is a disorder of fat metabolism (lipid storage) that results in an unusual accumulation of fat deposits around the neck and shoulder areas. Adult alcoholic males are most often affected, although women and those who do not drink...

Childhood acute lymphoblastic leukemia (ALL) is a type of cancer in which the bone marrow makes too many immature lymphocytes (a type of white blood cell). Childhood acute lymphoblastic leukemia (also called acute lymphocytic leukemia or A...

Leukoedema is a benign condition that affects the mucous membranes inside the mouth, causing them to appear white or grayish in color. It is often mistaken for oral thrush or leukoplakia, but it is actually a harmless and temporary condition that ...

Leukoplakia is a condition characterized by thick, white patches that form on the mucous membranes of the mouth and sometimes the throat. These patches are caused by an overgrowth of cells and are often a result of chronic irritation or inflammati...

Granuloma annulare is a chronic degenerative skin disorder. The most common form is localized granuloma annulare, which is characterized by the presence of small, firm red or yellow colored bumps (nodules or papules) that appear arranged in a ring...

Lichen Planus is a rare, recurrent, itchy rash or area of inflammatory eruptions (lesions) of unknown origin characterized by shiny reddish-purple spots on the skin and gray-white ones in the mouth. The disorder may present as itchy spots on the w...

Lichen sclerosus facts Lichen sclerosus is a long-term problem of the skin that mostly affects the genital and perianal areas. Lichen sclerosus is most commonly seen in post-menopausal women. It is uncommon in men and chil...

Lichen sclerosus is a chronic skin disorder that most commonly affects post-menopausal women. However, it is sometimes identified among pre-menopausal women, and, even more rarely, among males. When found in males, the disease is known as balaniti...

A lipoma is a slow-growing, fatty lump that's most often situated between your skin and the underlying muscle layer. A lipoma, which feels doughy and usually isn't tender, moves readily with slight finger pressure. Lipomas are usually detected in ...

Familial lipoprotein lipase (LPL) deficiency is a rare genetic metabolic disorder characterized by a deficiency of the enzyme lipoprotein lipase. The deficiency of this enzyme prevents affected individuals from properly digesting certain fats and ...

Sneddon syndrome is a rare progressive disorder affecting the blood vessels characterized by the association of a skin condition and neurological abnormalities. Characteristics include multiple episodes of reduced blood flow to the brain (cerebral...

Liver cancer is a condition that happens when normal cells in the liver become abnormal and grow out of control into cancer. Malignant or cancerous cells that arise out of liver cells are called hepatocellular carcinoma, and cancer that ar...

Drug-induced liver diseases are diseases of the liver that are caused by physician-prescribed medications, over-the-counter medications, vitamins, hormones, herbs, illicit ("recreational") drugs, and environmental toxins. What is the liver...

Congenital lobar emphysema is a rare respiratory disorder in which air can enter the lungs but cannot escape, causing overinflation (hyperinflation) of the lobes of the lung. It is most often detected in newborns or young infants, but some cases d...

Paracoccidioidomycosis (PCM) is a chronic infectious tropical disease caused by the fungus Paracoccidioides brasiliensis. The initial infection usually occurs in the lungs, but may also spread to the skin, mucous membranes, and other parts of the ...

Epidermolysis bullosa (EB) is a genetic skin disorder characterized clinically by blister formation from mechanical trauma. There are four main types with additional sub-types identified. There is a spectrum of severity, and within each type, one ...

Urticaria pigmentosa is a rare skin disorder that is a localized (cutaneous) form of mastocytosis. Some clinicians suggest that urticaria pigmentosa is the childhood form of mastocytosis. Mast cells are specialized cells of connective tissue that ...

Lowe syndrome is characterized by vision problems including clouding of the lenses of the eyes (cataracts) that are present at birth, kidney problems that usually develop in the first year of life, and brain abnormalities that are associated with ...

Congenital syphilis is a chronic infectious disease caused by a spirochete (treponema pallidum) acquired by the fetus in the uterus before birth. Symptoms of this disease may not become apparent until several weeks or months after birth and, in so...

Systemic lupus erythematosus (SLE) is an autoimmune disease. SLE is characterized by the production of unusual antibodies in the blood. SLE is eight times more common in women than men. The cause(s) of SLE is (ar...

Jessner lymphocytic infiltrate of the skin is an uncommon disorder that is characterized by benign accumulations of lymph cells in the skin. These small lesions are solid, pink or red in color, and appear on the face, neck, and/or back. Skin surro...

What is male breast cancer? Men possess a small amount of nonfunctioning breast tissue (breast tissue that cannot produce milk) that is concentrated in the area directly behind the nipple on the chest wall. Like breast cancer in women, can...

What is male breast cancer? Men possess a small amount of nonfunctioning breast tissue (breast tissue that cannot produce milk) that is concentrated in the area directly behind the nipple on the chest wall. Like breast cancer in women, can...

Degos disease is an extremely rare disorder in which small and medium sized arteries become blocked (occlusive arteriopathy), restricting the flow of blood to affected areas. Degos disease usually causes characteristic skin lesions that may last f...

Malignant carcinoid syndrome is characterized by a variety of signs and symptoms. Carcinoid tumors are neuroendocrine tumors that develop from primitive stem cells that can give rise to a variety of cell types. When a rare malignant...

Melanoma is a type of skin cancer that develops in the cells that produce melanin, the pigment that gives skin its color. It is the most serious type of skin cancer and can spread to other parts of the body if not detected and treated early. Melan...

Melanoma, the most serious type of skin cancer, develops in the cells (melanocyt...

Melasma facts Melasma is most common in women 20-50 years of age. Melasma looks like brown, tan, or blue-gray spots on the face (hyperpigmentation). Melasma is characterized by three location patterns (central fa...

Dextrocardia with Situs Inversus is a rare heart condition characterized by abnormal positioning of the heart. In this condition, the tip of the heart (apex) is positioned on the right side of the chest. Additionally, the position of the heart cha...

Erythromelalgia is a rare condition that primarily affects the feet and, less commonly, the hands (extremities). It is characterized by intense, burning pain of affected extremities, severe redness (erythema), and increased skin temperature that m...

Marinesco-Sjogren syndrome (MSS) is a rare genetic disorder that affects multiple organ systems of the body. Common symptoms include difficulty coordinating voluntary movements due to degeneration (atrophy) of the cerebellum (cerebellar ataxia), c...

Hereditary multiple osteochondromas (HMO) is a rare genetic disorder characterized by multiple benign (noncancerous) bone tumors that are covered by cartilage (osteochondromas), often on the growing end (metaphysis) of the long bones of the legs, ...

Multiple pterygium syndrome is a very rare genetic disorder characterized by minor facial anomalies, short stature, vertebral defects, multiple joints in a fixed position (contractures) and webbing (pterygia) of the neck, inside bend of the elbows...

Nail-patella syndrome (NPS) is a rare genetic disorder that is usually apparent at birth or during early childhood. Although the symptoms and physical characteristics associated with NPS may vary, characteristic abnormalities tend to include impro...

Flesh-eating bacteria (necrotizing fasciitis) is a rare infection of the skin and tissues below it. It can be deadly if not treated quickly. Necrotizing fasciitis spreads quickly and aggressively in an infected person. It causes tissue dea...

Infant jaundice is yellow discoloration of a newborn baby's skin and eyes. Infant jaundice occurs because the baby's blood contains an excess of bilirubin (bil-ih-ROO-bin), a yellow pigment of red blood cells. Infant jaundice is a common c...

Listeriosis is a rare but serious infectious disease caused by the bacterium Listeria monocytogenes, which is predominantly transmitted to humans through the consumption of contaminated food. Clinical syndromes associated with listeriosis include ...

General DiscussionNeonatal lupus is a rare autoimmune disorder that is present at birth (congenital). Affected infants often develop a characteristic red rash or skin eruption. In addition, infants with neonatal lupus may develop liver di...

Wiedemann-Rautenstrauch syndrome (WRS), also known as neonatal progeroid syndrome, is a very rare genetic disorder characterized by an aged appearance at birth (old man look) growth delays before and after birth (prenatal and postnatal growth reta...

Idiopathic nodular panniculitis is a rare spectrum of skin disorders characterized by single or multiple, tender or painful bumps below the surface of the skin (subcutaneous nodules) that usually lead to inflammation of the subcutaneous layer of f...

Epidermolysis bullosa (EB) is a genetic skin disorder characterized clinically by blister formation from mechanical trauma. There are four main types with additional sub-types identified. There is a spectrum of severity, and within each type, one ...

Renal glycosuria, also known as renal glucosuria, is a rare condition in which the simple sugar glucose is eliminated (excreted) in the urine despite normal or low blood glucose levels. With normal kidney (renal) function, glucose is excreted in t...

Henoch-Schonlein purpura is a rare inflammatory disease of the small blood vessels (capillaries) and is usually a self-limited disease. It is the most common form of childhood vascular inflammation (vasculitis) and results in inflammatory changes ...

Oculocerebrocutaneous (OCC) syndrome, a rare genetic disorder, is apparent at birth (congenital). The disorder is characterized primarily by eye (ocular), brain (e.g., cerebral), and skin (cutaneous) malformations. For example, many affected infan...

Tethered cord syndrome is a stretch-induced functional disorder associated with the fixation (tethering) effect of inelastic tissue on the caudal spinal cord, limiting its movement. This abnormal attachment is associated with progressive stretchin...

Alkaptonuria is a rare genetic metabolic disorder characterized by the accumulation of homogentisic acid in the body. Affected individuals lack enough functional levels of an enzyme required to breakdown homogentisic acid. Affected individuals may...

Alkaptonuria is a rare genetic metabolic disorder characterized by the accumulation of homogentisic acid in the body. Affected individuals lack enough functional levels of an enzyme required to breakdown homogentisic acid. Affected individuals may...

Oculocerebrocutaneous (OCC) syndrome, a rare genetic disorder, is apparent at birth (congenital). The disorder is characterized primarily by eye (ocular), brain (e.g., cerebral), and skin (cutaneous) malformations. For example, many affected infan...

Oculocutaneous albinism (OCA) is a group of rare inherited disorders characterized by a reduced amount or complete lack of melanin pigment in the skin, hair, and eyes. These conditions are caused by mutations in specific genes that are necessary f...

Ollier disease is a rare skeletal disorder characterized by abnormal bone development (skeletal dysplasia). While this disorder may be present at birth (congenital); it may not become apparent until early childhood when symptoms, such as deformiti...

Oral leukoplakia is a condition characterized by thick, white patches or plaques that form on the inside of the mouth, typically on the cheeks, gums, or tongue. These patches cannot be scraped off and may be rough or slightly raised. ...

Erythrokeratolysis hiemalis is an extremely rare form of ichthyosis that was first described in South Africa but has subsequently been identified in other countries. In such cases, a link to South Africa has been determined. The disorder is charac...

Erythrokeratolysis hiemalis is an extremely rare form of ichthyosis that was first described in South Africa but has subsequently been identified in other countries. In such cases, a link to South Africa has been determined. The disorder is charac...

Paget disease of the breast is a form of breast cancer that affects the skin of the nipple. The cause of Paget disease of the breast is poorly understood, but it may be related to tumor cells from other sites in the breast traveling...

What is the pancreas, and what is the function of the pancreas? The pancreas is an organ in the abdomen that sits in front of the spine above the level of the belly button. It performs two main functions. First, it makes insulin, a hormone...

What is the pancreas, and what is the function of the pancreas? The pancreas is an organ in the abdomen that sits in front of the spine above the level of the belly button. It performs two main functions. First, it makes insulin, a hormone...

Idiopathic nodular panniculitis is a rare spectrum of skin disorders characterized by single or multiple, tender or painful bumps below the surface of the skin (subcutaneous nodules) that usually lead to inflammation of the subcutaneous layer of f...

Idiopathic nodular panniculitis is a rare spectrum of skin disorders characterized by single or multiple, tender or painful bumps below the surface of the skin (subcutaneous nodules) that usually lead to inflammation of the subcutaneous layer of f...

Papillon-Lefevre Syndrome (PLS) is an extremely rare genetic disorder that typically becomes apparent from approximately one to five years of age. PLS is characterized by the development of dry scaly patches on the skin of the palms and the soles ...

Papillon-Lefevre Syndrome (PLS) is an extremely rare genetic disorder that typically becomes apparent from approximately one to five years of age. PLS is characterized by the development of dry scaly patches on the skin of the palms and the soles ...

Penile cancer is a disease in which malignant (cancer) cells form in the tissues of the penis. The penis is a rod-shaped male reproductive organ that passes sperm and urine from the body. It contains two types of erectile tissue (spongy ti...

Penile cancer is a disease in which malignant (cancer) cells form in the tissues of the penis. The penis is a rod-shaped male reproductive organ that passes sperm and urine from the body. It contains two types of erectile tissue (spongy ti...

Phlebitis refers to inflammation of a vein and it can be caused by any insult to the blood vessel wall, impaired venous flow, or coagulation abnormality. Pain, swelling, redness, and tenderness are some common symptoms of phlebitis....

Phlebitis refers to inflammation of a vein and it can be caused by any insult to the blood vessel wall, impaired venous flow, or coagulation abnormality. Pain, swelling, redness, and tenderness are some common symptoms of phlebitis....

Refsum disease is one of a family of genetic disorders known as the leukodystrophies in which, as a consequence of the disruption of lipid metabolism, the myelin sheath that insulates and protects the nerves of the brain fails to grow. It is inher...

Refsum disease is one of a family of genetic disorders known as the leukodystrophies in which, as a consequence of the disruption of lipid metabolism, the myelin sheath that insulates and protects the nerves of the brain fails to grow. It is inher...

Incontinentia Pigmenti (IP) is a rare genetic dermatological disorder affecting the skin, hair, teeth, and central nervous system. Progressive skin changes occur in four stages, the first of which appear in early infancy or can be present at birth...

Pilonidal cyst facts Pilonidal cysts are fluid-filled sacs that form at the top of the crease of the buttocks above the sacrum. A painful abscess can form if the cyst and the overlying skin become infected. Pilonidal cysts...

Bowen disease is a rare skin disorder. Affected individuals develop a slow-growing, reddish scaly patch or plaque on the skin. Sun exposed areas of the skin are most often affected. Bowen disease only affects the outermost layer of the skin (epide...

Branchio-oculo-facial syndrome (BOFS) is a very rare genetic disorder that is apparent at birth (congenital). As of 2004, only about 50 cases of BOFS had been reported in the medical literature. The symptoms of most BOFS patients include the proli...

Pernicious anemia is a rare blood disorder characterized by the inability of the body to properly utilize vitamin B12, which is essential for the development of red blood cells. Most cases result from the lack of the gastric protein known as intri...

Primary central hypoventilation syndrome is a disorder affecting normal breathing.  It causes people to take shallow breaths resulting in a lack of oxygen and accumulation of carbon dioxide in the blood.  The com...

Psoriasis facts Psoriasis is a chronic inflammatory skin disease. Patients with psoriasis tend to be obese and are predisposed to diabetes and heart disease. Psoriasis can be initiated by certain environmental tr...

Pubic lice, also known as crabs, are tiny parasitic insects that infest the hair in the genital area. They are spread through close physical contact, such as sexual activity, and can cause itching and irritation in the affected area. Pubic lice ar...

Pulmonary hypertension is a life-threatening illness if not taken care of properly. If diagnosed, treatments can alleviate the symptoms and help you live with the disease more comfortably. High blood pressure in the arteries that run from your hea...

Langerhans cell histiocytosis (LCH) is a spectrum of rare disorders characterized by overproduction (proliferation) and accumulation of a specific type of white blood cell (histiocyte) in the various tissues and organs of the body (lesions). The l...

Acquired Pure Red Cell Aplasia is a rare bone marrow disorder characterized by an isolated decline of red blood cells (erythrocytes) produced by the bone marrow. Affected individuals may experience fatigue, lethargy, and/or abnormal paleness of th...

Thrombotic thrombocytopenia purpura (TTP) is a rare, serious blood disease. Major symptoms may include a severe decrease in the number of blood platelets (thrombocytopenia), abnormal destruction of red blood cells (hemolytic anemia), and disturban...

5-Oxoprolinuria is a biochemical finding that can arise from two underlying metabolic disorders. It is characterized by excretion of massive amounts of the chemical 5-oxoproline....

Rapp-Hodgkin syndrome, an extremely rare inherited multisystem disorder that is apparent at birth (congenital) or during infancy, belongs to a group of diseases known as ectodermal dysplasias. Ectodermal dysplasias typically affect the skin, teeth...

X-linked ichthyosis is a genetic skin disorder that affects males. It is an inborn error of metabolism characterized by a deficiency of the enzyme steroid sulfatase. Under normal conditions, this enzyme breaks down (metabolizes) cholesterol sulfat...

X-linked ichthyosis is a genetic skin disorder that affects males. It is an inborn error of metabolism characterized by a deficiency of the enzyme steroid sulfatase. Under normal conditions, this enzyme breaks down (metabolizes) cholesterol sulfat...

Ringworm facts Ringworm is a common fungal infection of the skin and is not due to a worm. The medical term for ringworm is tinea. The condition is further named for the site of the body where the infection occurs. ...

Toxic epidermal necrolysis (TEN) is a rare, sometimes life-threatening unless properly treated, immunological disorder of the skin. It is characterized by blisters that meld into one another to cover a substantial portion of the body (30% and more...

Toxic epidermal necrolysis (TEN) is a rare, sometimes life-threatening unless properly treated, immunological disorder of the skin. It is characterized by blisters that meld into one another to cover a substantial portion of the body (30% and more...

Parry-Romberg syndrome is a rare, acquired disorder characterized by slowly progressive shrinkage (atrophy) of the skin and soft tissues of half of the face (hemifacial atrophy). In rare cases, both sides of the face are affected. In some cases, a...

Rosai-Dorfman disease is a rare disorder characterized by overproduction (proliferation) and accumulation of a specific type of white blood cell (histiocyte) in the lymph nodes of the body (lymphadenopathy), most often those of the neck (cervical ...

Rothmund-Thomson syndrome (RTS) is a rare genetic disorder that can affect many parts of the body. The disorder is characterized by distinctive abnormalities of the skin, sparse hair, eyelashes and/or eyebrows, small stature, skeletal and dental a...

Rothmund-Thomson syndrome is a rare condition that affects many parts of the body, particularly the skin....

Rothmund-Thomson syndrome (RTS) is a rare genetic disorder that can affect many parts of the body. The disorder is characterized by distinctive abnormalities of the skin, sparse hair, eyelashes and/or eyebrows, small stature, skeletal and dental a...

Scabies is an itchy, highly contagious skin disease caused by an infestation by the itch mite Sarcoptes scabiei. Direct skin-to-skin contact is the mode of transmission. A severe and relentless itch is the predominant symp...

Scabies is a highly contagious skin infestation caused by the microscopic mite Sarcoptes scabiei. It is characterized by intense itching and a pimple-like rash. Scabies is usually spread through close physical contact with an infected person, and ...

Toxic epidermal necrolysis (TEN) is a rare, sometimes life-threatening unless properly treated, immunological disorder of the skin. It is characterized by blisters that meld into one another to cover a substantial portion of the body (30% and more...

Psoriasis is an inflammatory disease of the skin that is estimated to affect about 2.2% of the adult population. Some people may have a genetic predisposition to psoriasis. The genes affected seem to be involved with control of the immune system. ...

Scleroderma facts Scleroderma is a disease of the connective tissue featuring skin thickening that can involve scarring, blood vessel problems, varying degrees of inflammation, and is associated with an overactive immune system....

Scleroderma is a chronic autoimmune disease that causes the skin and connective tissues to become thickened and hardened. Oral scleroderma specifically refers to the involvement of the mouth and oral cavity in the disease. This can manifest as tig...

Seborrheic dermatitis facts Seborrheic dermatitis is probably the single most common inflammatory skin condition affecting humans aside from acne vulgaris. Seborrheic dermatitis is highly treatable but incurable. ...

Shingles is a medical condition that is caused by the reactivation of the chickenpox-causing virus in the body. Shingles are extremely painful but it isn’t life-threatening.  Shingles is a painful rash that occurs anywher...

Bloom syndrome is a rare genetic disorder characterized by short stature; increased sensitivity to light (photosensitivity); multiple small dilated blood vessels on the face (facial telangiectasia), often resembling a butterfly in shape; immune de...

Sick building syndrome is believed by some to be an illness caused by unknown agents in buildings. Sick building syndrome is a controversial subject because many experts do not think it is a true syndrome. Sick building sy...

Sjogren's Syndrome is a chronic autoimmune disorder in which the body's immune system mistakenly attacks its own moisture-producing glands, leading to symptoms such as dry eyes, dry mouth, and dry skin. It can also affect other parts of the body, ...

Squamous cell carcinoma (SCC) is the second most common skin cancer with between 200,000 and 250,000 cases reported each year. It is a malignant cancer that usually develops from the epidermis and/or the mucous lining of the body cavities (epithel...

Peeling skin syndrome is a rare inherited skin disorder characterized by painless, continual, spontaneous skin peeling (exfoliation). Other findings may include blistering and/or reddening of the skin (erythema) and itching (pruritus). Peeling ski...

Skin tag facts Skin tags are very common but harmless small, soft skin growths. Skin tags tend to occur on the eyelids, neck, armpits, groin folds, and under breasts. One person may have anywhere from one to over...

Smallpox facts Smallpox is a contagious disease caused by the variola virus. Smallpox was the first disease to be eliminated from the world through public-health efforts and vaccination. Smallpox still poses a th...

General DiscussionSneddon syndrome is a rare progressive disorder affecting the blood vessels characterized by the association of a skin condition and neurological abnormalities. Characteristics include multiple episodes of reduced blood ...

Sneddon syndrome is a rare progressive disorder affecting the blood vessels characterized by the association of a skin condition and neurological abnormalities. Characteristics include multiple episodes of reduced blood flow to the brain (cerebral...

Familial idiopathic basal ganglia calcification (FIBGC) is a rare neurological disorder characterized by the presence of abnormal calcium deposits (calcifications) of unknown cause. Associated symptoms include progressive deterioration of cognitiv...

Split hand/split foot malformation (SHFM) is a genetic disorder characterized by the complete or partial absence of some fingers or toes, often combined with clefts in the hands or feet. There may also be the appearance of webbing between fingers ...

Split hand/split foot malformation (SHFM) is a genetic disorder characterized by the complete or partial absence of some fingers or toes, often combined with clefts in the hands or feet. There may also be the appearance of webbing between fingers ...

Billions of people worldwide carry the Staphylococcus aureus bacteria, but most are unaffected by it. There are more than 30 different types of bacteria that are classified as Staphylococcus; the most common is Staphylococcus aureus. ...

Stretch mark facts The medical name for stretch marks is striae distensae. Stretch marks are very common. Stretch marks rarely are a sign of a significant medical problem. Stretch marks are generally pa...

General DiscussionEndocardial fibroelastosis (EFE) is a rare heart disorder that affects infants and children. It is characterized by a thickening within the muscular lining of the heart chambers due to an increase in the amount of suppor...

Reflex sympathetic dystrophy syndrome (RSDS), also known as complex regional pain syndrome, is a rare disorder of the sympathetic nervous system that is characterized by chronic, severe pain. The sympathetic nervous system is that part of the auto...

Sweet syndrome is a rare skin disorder characterized by fever, inflammation of the joints (arthritis), and the sudden onset of a rash. The rash consists of bluish-red, tender papules that usually occur on the arms, legs, face or neck, most often o...

Syphilis is a sexually transmitted disease (STD) caused by an infection with bacteria known as Treponema pallidum. Like other STDs, syphilis can be spread by any type of sexual contact. Syphilis can also be spread from an infected mother to the fe...

Congenital syphilis is a chronic infectious disease caused by a spirochete (treponema pallidum) acquired by the fetus in the uterus before birth. Symptoms of this disease may not become apparent until several weeks or months after birth and, in so...

Pseudoxanthoma elasticum, PXE, is an inherited disorder caused y mutations in the ABCC6 transporter gene that affects connective tissue in some parts of the body. Elastic tissue in the body becomes mineralized; that is, calcium and other minerals ...

Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal thickening of the skin. Connective tissue is composed of collagen, which supports and binds other body tissues. There are several types of scleroderma. Some type...

POEMS syndrome is an extremely rare multisystem disorder. POEMS is an acronym that stands for (P)olyneuropathy, disease affecting many nerves; (O)rganomegaly, abnormal enlargement of an organ; (E)ndocrinopathy, disease affecting certain hormone-pr...

Central pain syndrome is a neurological disorder caused by damage to the central nervous system (CNS). Common symptoms include pain and loss of sensation, usually in the face, arms and/or legs. Pain is often constant and can be mild, moderate, or ...

What are yeast infections? What are commonly known as "yeast" infections are caused by various species of a yeast-like fungus called Candida, particularly the species Candida albicans. Yeast organisms are part of the germs (including bacte...

Tinea versicolor is a common fungal infection of the skin. The fungus interferes with the normal pigmentation of the skin, resulting in small, discolored patches. These patches may be lighter or darker in color than the surrounding skin and most c...

Esophageal atresia (EA) is a rare birth defect in which the esophagus (the tube that connects the throat with the stomach) does not develop normally. In infants with EA, the esophagus is usually separated into two parts, an upper and lower segment...

Esophageal atresia (EA) is a rare birth defect in which the esophagus (the tube that connects the throat with the stomach) does not develop normally. In infants with EA, the esophagus is usually separated into two parts, an upper and lower segment...

C syndrome, also known as Opitz trigonocephaly syndrome, is a rare disorder transmitted as a result of "gonadal mosaicism". Mosaicism refers to a condition in which a person has cells that differ from each other in genetic makeup. The difference i...

Tyrosinemia type I is a rare autosomal recessive genetic metabolic disorder characterized by lack of the enzyme fumarylacetoacetate hydrolase (FAH), which is needed for the final break down of the amino acid tyrosine. Failure to properly break dow...

Porphyria cutanea tarda (PCT) is a type of porphyria in which affected individuals are sensitive to sunlight. Exposed skin shows abnormalities that range from slight fragility of the skin to persistent scarring and disfiguration. Due to fragility ...

Porphyria cutanea tarda (PCT) is a type of porphyria in which affected individuals are sensitive to sunlight. Exposed skin shows abnormalities that range from slight fragility of the skin to persistent scarring and disfiguration. Due to fragility ...

Cholinergic urticaria is a relatively common disorder of the immune system characterized by an immediate skin reaction (hypersensitivity) to heat, emotional stress, and/or exercise. Symptoms of the disorder include the appearance of distinctive sm...

Physical urticaria is a condition in which red (erythematous) allergic skin lesions and itching (pruritus) are produced by exposure to heat, cold, or contact with chemicals or plants. These are called wheals by the medical community and may range ...

Cutis marmorata telangiectatica congenita (CMTC) is a rare inherited disorder characterized by discolored patches of skin caused by widened (dilated) surface blood vessels. As a result, the skin has a purple or blue "marbled" or "fishnet" appearan...

Congenital Varicella Syndrome is an extremely rare disorder in which affected infants have distinctive abnormalities at birth (congenital) due to the mother's infection with chickenpox (maternal varicella zoster) early during pregnancy (i.e., up t...

General DiscussionVentricular septal defects are heart defects that are present at birth (congenital). The normal heart has four chambers. The two upper chambers, known as atria, are separated from each other by a fibrous partition known ...

Verrucous carcinoma is a rare type of slow-growing, well-differentiated squamous cell carcinoma that typically affects the mucous membranes of the oral cavity, larynx, and genital area. It is characterized by a warty or cauliflower-like appearance...

Vitiligo is a disease in which the pigment cells of the skin, melanocytes, are destroyed in certain areas. Vitiligo results in depigmented, or white, patches of skin in any location on the body. Vitiligo can be focal and l...

Alopecia areata is a disorder characterized by loss of hair. Sometimes, this means simply a few bare patches on the scalp. In other cases, hair loss is more extensive. Although the exact cause is not known, this is thought to be an autoimmune diso...

Neurofibromatosis type 1 (NF1), also called von Recklinghausen's disease, is a rare genetic disorder characterized by the development of multiple noncancerous (benign) tumors of nerves and skin (neurofibromas) and areas of abnormally decreased or ...

Neurofibromatosis type 1 (NF1), also called von Recklinghausen's disease, is a rare genetic disorder characterized by the development of multiple noncancerous (benign) tumors of nerves and skin (neurofibromas) and areas of abnormally decreased or ...

Lichen sclerosus is a chronic skin disorder that most commonly affects post-menopausal women. However, it is sometimes identified among pre-menopausal women, and, even more rarely, among males. When found in males, the disease is known as balaniti...

In ichthyosis vulgaris, the skin cells are produced at a normal rate, but they do not shed normally at the surface of the outermost layer of skin (stratum corneum) and are not shed as quickly as they should be. The result is a build-up of scale. F...

General DiscussionRomano-Ward syndrome is an inherited heart (cardiac) disorder characterized by abnormalities affecting the electrical system of the heart. The severity of Romano-Ward syndrome varies greatly from case to case. Some indiv...

Warts are small, self-limited tumors caused by human papillomavirus (HPV) infection. Types of warts include common warts, flat warts, plantar warts, periungual warts, and filiform warts. Warts typically disappear on their ...

Weber-Christian disease facts Weber-Christian disease is an uncommon inflammatory condition of the fatty tissues of the body. It's a disease of unknown cause. It most commonly affects the thighs and legs of women...

Weil syndrome, a rare infectious disorder, is a severe form of the bacterial infection caused by Leptospira bacteria known as leptospirosis. Weil syndrome is characterized by dysfunction of the kidneys and liver, abnormal enlargement of the liver ...

Familial eosinophilic cellulitis is a rare skin disorder. It is characterized by raised, red, swollen, and warm areas of skin, in a flame-shaped pattern with associated pain. The exact cause of the disease is unknown. However, bites of spiders, be...

The WAS-related disorders are a spectrum of conditions affecting the immune system that are caused by mutations in the WAS gene. These disorders include Wiskott-Aldrich syndrome, X-linked thrombocytopenia and X-linked congenital neutropenia. The W...

Waardenburg syndrome is a genetic disorder that may be evident at birth (congenital). The range and severity of associated symptoms and findings may vary greatly from case to case. However, primary features often include distinctive facial abnorma...

Hyperlipoproteinemia type III, also known as dysbetalipoproteinemia or broad beta disease, is a rare genetic disorder characterized by improper breakdown (metabolism) of certain fatty materials known as lipids, specifically cholesterol and triglyc...

Xeroderma pigmentosum (XP) is a group of rare inherited skin disorders characterized by a heightened reaction to sunlight (photosensitivity) with skin blistering occurring after exposure to the sun. In some cases, pain and blistering may occur imm...

De Sanctis-Cacchione syndrome is an extremely rare disorder characterized by the skin and eye symptoms of xeroderma pigmentosum (XP) occurring in association with neurological abnormalities, mental retardation, unusually short stature (dwarfism), ...

Acrodermatitis enteropathica (AE) is a disorder of zinc metabolism that occurs in one of two forms: an inborn (congenital) form and an acquired form. The inborn form of AE is a rare genetic disorder characterized by intestinal abnormalities that l...