Superficial Epidermolytic Ichthyosis-Hypertrichosis as a Clue to Diagnosis.
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.
Dermatology Department, Coimbra University Hospital, Coimbra, Portugal.
Ana
A
Gameiro
Dermatology Department, Coimbra University Hospital, Coimbra, Portugal.
Rita
R
Cabral
Dermatology Department, Coimbra University Hospital, Coimbra, Portugal.
Ana
A
Moreno
Dermatology Department, Coimbra University Hospital, Coimbra, Portugal.
Oscar
O
Tellechea
D005260:Female; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D006983:Hypertrichosis / Q000209:etiology*; D007223:Infant