Superficial Epidermolytic Ichthyosis—Hypertrichosis as a Clue to Diagnosis

    September 2016 in “ Pediatric Dermatology ”
    Ana Passos, Rita Cabral, Ana Triguero Moreno, Óscar Tellechea
    TLDR Hypertrichosis (excessive hair growth) can help diagnose superficial epidermolytic ichthyosis.
    Superficial epidermolytic ichthyosis (SEI) was described as an autosomal dominant disorder caused by a mutation in the keratin 2 gene, characterized by mild hyperkeratosis, superficial blisters, and shedding. The report focused on an 18-month-old girl with SEI who presented with marked hypertrichosis. The authors suggested that hypertrichosis, although not always present, could be a significant diagnostic clue for SEI.
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