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...

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 ...

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 ...

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...

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...

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...

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 ...

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...

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. ...

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...

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 ...

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...

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...

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 ...

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...

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...

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...

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 ...

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...