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...

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...

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...

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...

Ataxia telangiectasia (AT) is a complex genetic neurodegenerative disorder that may become apparent during infancy or early childhood. The disorder is characterized by progressively impaired coordination of voluntary movements (ataxia), the develo...

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...

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...

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...