Diseases

Diseases

Contributors in Diseases

Diseases

A rare, pigmentary, and atrophic autosomal recessive disease affecting all races. It is manifested as an extreme photosensitivity to ultraviolet light as the result of a deficiency in the enzyme that ...

pseudoxanthoma elasticum

Health care; Diseases

A rare, progressive inherited disorder resulting from extensive basophilic degeneration of elastic tissue, usually presenting after puberty and involving the skin, eye, and cardiovascular system. ...

Pelizaeus-Merzbacher disease

Health care; Diseases

A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has ...

subacute sclerosing panencephalitis

Health care; Diseases

A rare, slowly progressive encephalitis caused by chronic infection with the measles virus. The condition occurs primarily in children and young adults, approximately 2-8 years after the initial ...

adrenal rest tumor

Health care; Diseases

A rare, usually benign, ovarian tumor thought to be derived from embryonic rest cells of the adrenals. This tumor causes various degrees of masculinization.

malignant histiocytosis

Health care; Diseases

A rare, usually rapidly progressive disorder, characterized by abrupt onset, fever, weight loss, hepato-splenomegaly, pancytopenia, and lymphadenopathy.

Wiskott-Aldrich syndrome

Health care; Diseases

A rare, X-linked immunodeficiency syndrome characterized by eczema, thrombocytopenic purpura, and recurrent pyogenic infection. It is seen exclusively in young boys. Typically, immunoglobulin M ...