By Gary M. White, MD
Superficial epidermolytic ichthyosis (SEI) is an autosomal dominant disorder caused by a mutation in the keratin 2 gene and clinically characterized by mild hyperkeratosis, superficial blisters and shedding.
The skin shows dark-gray hyperkeratosis, predominantly over the flexures, superficial blistering, generally induced by trauma or heat, and focal areas of denudation or shedding in a distinct pattern called the moulting phenomenon. Some patients also manifest hypertrichosis.
An 18-month-old girl presented with diffuse areas of superficial peeling and dark-grey ichthyosiform plaques on the flexures from the age of 1 month in association with progressive and diffuse hypertrichosis on her arms and legs. She was a healthy, full-term neonate, born from nonconsanguineous parents. PD 2016;33;e346.