Preferred Label : piebaldism;

MeSH definition : Autosomal dominant, congenital disorder characterized by localized hypomelanosis of the skin and hair. The most familiar feature is a white forelock presenting in 80 to 90 percent of the patients. The underlying defect is possibly related to the differentiation and migration of melanoblasts, as well as to defective development of the neural crest (neurocristopathy). Piebaldism may be closely related to WAARDENBURG SYNDROME.;

MeSH synonym : piebald trait; Piebald Traits; Trait, Piebald; Traits, Piebald;

CISMeF synonym : albinism, cutaneous; albinism, partial;

Related MeSH term : Cutaneous Albinism; Partial Albinism;

MeSH annotation : hypopigmentation of skin & hair; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES;

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Autosomal dominant, congenital disorder characterized by localized hypomelanosis of the skin and hair. The most familiar feature is a white forelock presenting in 80 to 90 percent of the patients. The underlying defect is possibly related to the differentiation and migration of melanoblasts, as well as to defective development of the neural crest (neurocristopathy). Piebaldism may be closely related to WAARDENBURG SYNDROME.

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=2884
2014
false
true
false
France
scientific and technical information
piebaldism

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28/04/2025


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