Epidermolytic hyperkeratosis
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Abstract
There is a group of hereditary disorders of cornification characterized by an excessive accumulation of scales in the skin, which can range anywhere from mild and nonsymptomatic to life threatening. The term ichthyosis derives from the Greek root “icti”, which means fish. Epidermolytic hyperkeratosis (EHK), also known as bullous congenital ichthyosiform erythroderma, is an autosomal dominant disorder of cornification with a prevalence of 1:100,000 – 300,000. EHK is evident at birth or soon thereafter, characterized by blistering and erythroderma. There are numerous types of ichthyosis, of which the majority are extremely rare. Vulgar ichthyosis, X-linked ichthyosis, lamellar ichthyosis, and epidermolytic ichthyosis are amongst the 4 most common types. The case report presented involves a 13-year-old patient with a clinical diagnosis of Epidermolytic hyperkeratosis who was taken to medical consultation presenting severely compromised skin.
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