Preferred Label : Piebaldism;
ICD-11 definition : Piebaldism is a rare autosomal dominant disorder of melanocyte development. Common
characteristics include a congenital white forelock, scattered hypermelanotic and
hypomelanotic macules and a triangular shaped hypomelanotic patch on the forehead.
Typically, islands of hyperpigmentation are present within and at the border of hypomelanotic
areas. Piebaldism differs from albinism in that the affected cells maintain the ability
to produce pigment but have that specific function turned off. In albinism the cells
lack the ability to produce pigment altogether. It may be associated with KIT or SNAI2
mutations.;
Origin ID : 2089421143;
Currated CISMeF NLP mapping
- See also inter- (CISMeF)
Piebaldism is a rare autosomal dominant disorder of melanocyte development. Common
characteristics include a congenital white forelock, scattered hypermelanotic and
hypomelanotic macules and a triangular shaped hypomelanotic patch on the forehead.
Typically, islands of hyperpigmentation are present within and at the border of hypomelanotic
areas. Piebaldism differs from albinism in that the affected cells maintain the ability
to produce pigment but have that specific function turned off. In albinism the cells
lack the ability to produce pigment altogether. It may be associated with KIT or SNAI2
mutations.
