Understanding the key reason of adult-onset asthma and identifying unique phenotypes may hel...

What is aortic stenosis? Aortic stenosis is abnormal narrowing of the aortic valve. A number of conditions cause disease resulting in narrowing of the aortic valve. When the degree of narrowing becomes significant enough to impede the flow...

Aortic stenosis is abnormal narrowing of the aortic valve. A number of conditions cause disease resulting in narrowing of the aortic valve. When the degree of narrowing becomes significant enough to impede the flow of blood from the left ventricle...

A disorder in which a person's airways become inflamed, constrict, and bulge, as well as cre...

In childhood asthma, the lungs and airways become easily inflamed when exposed to certain triggers, such as inhaling pollen or catching a cold or other respiratory infection. Childhood asthma can cause bothersome daily symptoms t...

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...

Compartment syndrome describes increased pressure within a muscle compartment of the arm or leg. It is most often due to injury, such as fracture, that causes bleeding in a muscle, which then causes increased pressure in the muscle. This pressure ...

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...

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...

Dupuytren's contracture facts A Dupuytren's contracture is a localized scar tissue formation in the palm. The precise cause of a Dupuytren's contracture is not known. A Dupuytren's contracture is sometimes inheri...

Dysplasia epiphysealis hemimelica, also known as Trevor disease, is a rare skeletal developmental disorder of childhood. It is characterized by an overgrowth of cartilage on the ends (epiphyses) of the long bones of the arms and legs and the bones...

Emphysema is a lung disease that usually develops after a long period of smoking. Chronic bronchitis and emphysema are both types of lung disorders that are classified as chronic obstructive pulmonary disease (COPD) (COPD). COPD is an umbrella ter...

Progressive myoclonus epilepsy (PME) is a group of conditions involving the central nervous system and representing more than a dozen different diseases. These diseases share certain features, including a worsening of symptoms over time and the pr...

Progressive myoclonus epilepsy (PME) is a group of conditions involving the central nervous system and representing more than a dozen different diseases. These diseases share certain features, including a worsening of symptoms over time and the pr...

Extrinsic Allergic Pneumonia, also known as Allergic Interstitial Pneumonitis and Hypersensitivity Pneumonitis, is an inflammatory syndrome that affects the lungs. Extrinsic: the origin is an external matter - an antigen. Allergic: The cau...

Fibrocystic breast changes  Fibrocystic breast changes lead to the development of fluid-filled round or oval sacs (cysts) and more prominent scar-like (fibrous) tissue, which can make breasts feel tender, lumpy or ropy. Fibroc...

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...

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...

Kniest dysplasia is one of several forms of dwarfism that is caused by a change (mutation) in a gene known as COL2A1. This gene is involved in the production of a particular protein that forms type 2 collagen, which is essential for the normal dev...

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...

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...

Hereditary lymphedema is a genetic developmental disorder affecting the lymphatic system. It is characterized by swelling (edema) of certain parts of the body. The lymphatic system is a circulatory network of vessels, ducts, and nodes that filter ...

Pain located in the neck is a common medical condition. Neck pain can come from a number of disorders and diseases and can involve any of the tissues in the neck. Examples of common conditions causing neck pain are degenerative disc disease, neck ...

Neuromyelitis optica, also known as Devic disease (DD), is a chronic disorder of nerve tissue characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis). There appear to be two forms of this di...

Placenta previa is the attachment of the placenta to the wall of the uterus in a location that completely or partially covers the uterine outlet (opening of the cervix). Bleeding after the 20th week of gestation is the main symptom ...

Pulmonary alveolar proteinosis is a lung disorder characterized by a build-up of proteins, lipids, and other substances (together known as surfactants) in the lungs' air sacs, or alveoli. The alveoli are the air-holding cells in the lungs. The exc...

Androgen insensitivity refers to an inability of the body to respond properly to male sex hormones (androgens) produced during pregnancy. This occurs because of a change (mutation) in a gene involved in the production of the protein inside cells t...

Androgen insensitivity refers to an inability of the body to respond properly to male sex hormones (androgens) produced during pregnancy. This occurs because of a change (mutation) in a gene involved in the production of the protein inside cells t...

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....

Hereditary spastic paraplegia (HSP) is a general term for an expanding group of rare genetic disorders characterized by slowly progressive weakness (paraplegia) and increased muscle tone and stiffness (spasticity) of leg muscles. The age of onset,...

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...

Spondylolisthesis facts Spondylolisthesis is a forward or backward slippage of one vertebra on an adjacent vertebra. Causes of spondylolisthesis include trauma, degenerative, tumor, and birth defects. Symptoms of...

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...

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 ...