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  • Title: Late diagnosis of ectodermal dysplasia syndrome.
    Author: Granger RH, Marshman G, Liu L, McGrath JA.
    Journal: Australas J Dermatol; 2013 Feb; 54(1):46-8. PubMed ID: 22670871.
    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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