Superficial Epidermolytic Ichthyosis—Hypertrichosis as a Clue to Diagnosis
September 2016
in “
Pediatric Dermatology
”
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.
