Epidermolytic hyperkeratosis

Abstract

A 13-year-old boy presented to the dermatology clinic for treatment of a congenital ichthyosis with a history of generalized erythroderma and trauma related blistering at the time of birth. At the time of presentation he was noted to have red corrugated hyperkeratotic plaques involving the joint flexures, dorsal hands, and neck. Epidermolytic hyperkeratosis is a rare autosomal dominant genodermatosis that presents at birth with generalized erythema, blisters and erosions. In the subsequent months after birth erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet. The disease is caused by mutations in either keratin 1 or keratin 10. Treatment options include urea or alpha-hydroxy acid containing creams as well as topical and systemic retinoids. Epidermolytic hyperkeratosis is also known as bullous congenital ichthyosiform erythroderma (of Brocq) and disorder of cornification type 3.