Superficial Epidermolytic Ichthyosis—Hypertrichosis as a Clue to Diagnosis

September 2016 in “ Pediatric Dermatology ”

Ana Passos, Rita Cabral, Ana Triguero Moreno, Óscar Tellechea

superficial epidermolytic ichthyosis SEI hypertrichosis keratin 2 gene hyperkeratosis superficial blisters shedding

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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research Systematized Epidermal Nevus with Epidermolytic Hyperkeratosis Improving with Topical Calcipotriol/Betamethasone Dipropionate Combination Ointment

12 citations , September 2012 in “Pediatric Dermatology”

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