Late diagnosis of ectodermal dysplasia syndrome |
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| Authors: | Robert H Granger Gillian Marshman Lu Liu John A McGrath |
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| Institution: | 1. Flinders Medical Centre, Adelaide, Australia;2. The Robin Eady National Diagnostic Epidermolysis Bullosa Laboratory, GSTS Pathology, St Thomas' Hospital;3. St John's Institute of Dermatology, King's College London, London, UK |
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| Abstract: | 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. |
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| Keywords: | ectodermal dysplasia Schö pf‐Schulz‐Passarge syndrome |
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