Gameiro Ana, Cabral Rita, Moreno Ana, Tellechea Oscar
Dermatology Department, Coimbra University Hospital, Coimbra, Portugal.
Pediatr Dermatol. 2016 Nov;33(6):e346-e348. doi: 10.1111/pde.12955. Epub 2016 Sep 7.
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.
浅表性表皮松解性鱼鳞病（SEI）是一种常染色体显性遗传病，由角蛋白2基因的突变引起，临床特征为轻度角化过度、浅表水疱和脱屑，即蜕皮现象。我们报告了一例18个月大患有明显多毛症的女孩的SEI病例。尽管并非总是出现，但我们认为多毛症可能是诊断的重要线索。
