Piebaldism
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.
Year introduced: 1991
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Tree Number(s): C16.320.290.040.600, C16.320.565.100.102.600, C16.320.850.080.600, C17.800.621.440.102.600, C17.800.827.080.600, C18.452.648.100.102.600
MeSH Unique ID: D016116
Entry Terms:
- Albinism, Partial
- Partial Albinism
- Piebald Trait
- Albinism, Cutaneous
- Cutaneous Albinism
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