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...

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...

Dubowitz syndrome is a very rare genetic and developmental disorder involving multiple congenital (inherited) anomalies including but not limited to: (1) growth failure/short stature; (2) unusual but characteristic facial features; (3) a small hea...

A type of dermatitis, dyshidrotic eczema is much more common among women. Dyshidrotic eczema, also known as dyshidrosis or pompholyx, is a type of eczema that causes a blistering rash on the hands or feet, especially the fingers, palms, an...

Eosinophilic gastroenteritis is a rare digestive disease characterized by the triad of eosinophilic infiltration of segments of the gastrointestinal tract, abnormalities of gastrointestinal function (varying from dyspepsia and obstruction to diarr...

Mycosis Fungoides is a rare form of T-cell lymphoma of the skin (cutaneous); the disease is typically slowly progressive and chronic. In individuals with Mycosis Fungoides, the skin becomes infiltrated with plaques and nodules that are composed of...

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...

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...

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...

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...