Epidermolytic Hyperkeratosis

Excerpt

Epidermolytic hyperkeratosis is a rare autosomal dominant pathology of cornification caused by mutations in keratins 1 and 10. It was originally termed bullous congenital ichthyosiform erythroderma owing to the hallmark features of erythroderma, blistering and skin denudation present at birth and subsequent development of marked hyperkeratosis. This presentation occurs with or without palmoplantar keratoderma. Epidermolytic hyperkeratosis is easily distinguishable from other forms of congenital ichthyoses via its highly characteristic histologic findings. In more recent literature, epidermolytic hyperkeratosis has the designation as a pathologic term, and the disease entity has the name of epidermolytic ichthyosis.