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Case Reports
Journal Article
Superficial Epidermolytic Ichthyosis-Hypertrichosis as a Clue to Diagnosis.
Pediatric Dermatology 2016 November
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, referred to as the moulting phenomenon. We report a case of SEI in an 18-month-old girl presenting with marked hypertrichosis. Although not invariably present, we believe that hypertrichosis can be an important clue for diagnosis.
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