Piebaldism (Q83802): Difference between revisions
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Piebaldismo é um transtorno autossômico dominante raro do desenvolvimento de melanócitos. As características comuns incluem um topete branco congênito, máculas hipermelanóticas e hipomelanóticas espalhadas e uma mancha hipomelanótica triangular na testa. Tipicamente, ilhas de hiperpigmentação estão presentes dentro e na borda das áreas hipomelanóticas. O piebaldismo difere do albinismo, pois as células afetadas mantêm a capacidade de produzir pigmento, mas têm essa função específica desligada. No albinismo as células não têm a capacidade de produzir pigmento completamente. Pode estar associada a mutações KIT ou SNAI2. | |||
| description / en | description / en | ||
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. | |||
Revision as of 09:09, 15 August 2026
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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_2089421143 |
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| English | Piebaldism |
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. |
