Piebaldism is a rare autosomal dominant disorder of melanocyte development in which the pigment-producing cells called melanocytes are absent from certain areas of the skin and hair. Typical features are a congenital white forelock, a triangular depigmented patch on the forehead, and scattered patches of normally pigmented and lighter skin, though the degree and pattern vary widely even within one family. It differs from true albinism because eye pigmentation is normal and the affected cells keep the ability to make pigment but have that function switched off, and it is unrelated to vitiligo. It is usually recognised at birth, and it has been associated with the genes KIT and SNAI2. In some people it occurs together with more serious developmental problems such as Waardenburg syndrome and Hirschsprung disease.
Facts
Classification
ICD-10 ChapterIV: Endocrine, Nutritional and Metabolic Diseases 2 Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) Sources
1. Piebaldism (Wikipedia)
Lead paragraph
absence of mature melanin-forming cells (melanocytes) in certain areas of the skin and hair
Lead paragraph [causative-agent-category]
It is a rare autosomal dominant disorder of melanocyte development.
Etiology
Piebaldism is an autosomal dominant hereditary condition
View the Source2. Orphadata (Orphanet): Orphadata cross-references for ORPHA:2884 Piebaldism
Orphadata (Orphanet)ICD-10 cross-referenceQuote, ICD-10 cross-reference
"Reference": "E70.3", "Source": "ICD-10"
View the Source 3. MedlinePlus Genetics (U.S. National Library of Medicine): Piebaldism - MedlinePlus Genetics
MedlinePlus Genetics (U.S. National Library of Medicine)Description and InheritanceQuote, Description and Inheritance
This condition is inherited in an autosomal dominant pattern , which means one copy of the altered gene in each cell is sufficient to cause the disorder.
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