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Late diagnosis of ectodermal dysplasia syndrome
Author(s) -
Granger Robert H,
Marshman Gillian,
Liu Lu,
McGrath John A
Publication year - 2013
Publication title -
australasian journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.67
H-Index - 53
eISSN - 1440-0960
pISSN - 0004-8380
DOI - 10.1111/j.1440-0960.2012.00895.x
Subject(s) - ectodermal dysplasia , medicine , dermatology , skin biopsy , hyperkeratosis , biopsy , dysplasia , epidermolytic hyperkeratosis , pathology
This case study reports the clinical, skin biopsy and molecular findings in a 56‐year‐old Filipino man with the autosomal recessive ectodermal dysplasia disorder, Schöpf‐Schulz‐Passarge syndrome, the precise nature of which was established only after reading of a similar case in this journal. In addition to the late diagnosis, successful clinical management of his acral hyperkeratosis and ulceration has been difficult, with oral retinoids exacerbating the skin fragility.