Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Skin Diseases, Genetic
Albinism
Preferred term
Piebaldism
Type
-
Topical Descriptor
Broader concept
Entry terms
- Albinism, Cutaneous
- Albinism, Partial
- Cutaneous Albinism
- Partial Albinism
- Piebald Trait
Scope note
- 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.
History note
- 91
In other languages
-
Finnish
-
albinismus partialis
-
Swedish
-
Kutan albinism
-
Partiell albinism
URI
http://www.yso.fi/onto/mesh/D016116
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