Late diagnosis of ectodermal dysplasia syndrome

Robert Granger, Gillian Marshman, L Liu, John McGrath

    Research output: Contribution to journalArticle

    6 Citations (Scopus)

    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.

    Original languageEnglish
    Pages (from-to)46-48
    Number of pages3
    JournalAustralasian Journal of Dermatology
    Volume54
    Issue number1
    DOIs
    Publication statusPublished - 2013

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