Superficial Epidermolytic Ichthyosis—Hypertrichosis as a Clue to Diagnosis. Issue 6 (7th September 2016)

• Record Type: Journal Article
• Authors: Gameiro, Ana; Cabral, Rita; Moreno, Ana; Tellechea, Oscar
• Is Part Of: Pediatric dermatology. Volume 33:Issue 6(2016:Nov./Dec.)
• Page Start: e346
• Page End: e348
• Publication Date: 2016-09-07
• Subjects: Pediatric dermatology -- Periodicals; Children -- Diseases -- Periodicals; 618.925
• DOI: 10.1111/pde.12955
• Languages: English
• ISSNs: 0736-8046

Abstract

Abstract: 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.