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  • Title: Piebaldism: an autonomous autosomal dominant entity.
    Author: Winship I, Young K, Martell R, Ramesar R, Curtis D, Beighton P.
    Journal: Clin Genet; 1991 May; 39(5):330-7. PubMed ID: 1860249.
    Abstract:
    Piebaldism is a disorder in which the major clinical features are patchy hypopigmentation of the skin and a white forelock. The manifestations of piebaldism overlap with those of other genodermatoses, in particular the Waardenburg syndrome, and it is uncertain whether piebaldism is a distinct entity. We have documented a family in which seven affected members in three generations have gross piebaldism without any additional stigmata. The intrafamilial phenotypic consistency is suggestive that this autosomal dominant disorder has independent syndromic status. Linkage studies using conventional gene markers failed to identity the locus of the faulty gene.
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