Epidermolytic hyperkeratosis

Epidermolytic hyperkeratosis, also known as bullous congenital ichthyosiform erythroderma is a rare skin disease in the ichthyosis family affecting around 1 in 250,000 people. more...

At birth, affected babies may have little or no top layer of skin, and are therefore at high risk from infection. Subsequently, scaling caused by hyperkeratosis is observed. There is a fairly large variation in the degree and extent of the scaling. In particular, some patients have scaling on the palms and soles of the feet whereas others do not. Usually scaling is seen on the rest of the body, often concentrated around the joints.

Additionally, patients periodically develop blisters (hence the bullous part of the name). Typically these will be more common in children than in adults.

This is a dominant genetic condition caused by mutations in the genes encoding the proteins keratin 1 or keratin 10. Keratin 1 is associated with the variants affecting the palms and soles, and keratin 10 is associated with the variants in which these are unaffected.

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