Piebaldism (Q83802): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed an Item |
||||||||||||||
| (6 intermediate revisions by the same user not shown) | |||||||||||||||
| description / pt-br | description / pt-br | ||||||||||||||
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. | |||||||||||||||
| Property / Canonical URI | |||||||||||||||
| Property / Canonical URI: https://id.who.int/icd/entity/2089421143 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / CURIE | |||||||||||||||
CID11:ID_2089421143 | |||||||||||||||
| Property / CURIE: CID11:ID_2089421143 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Canary Token | |||||||||||||||
dki-india-ID_2089421143 | |||||||||||||||
| Property / Canary Token: dki-india-ID_2089421143 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Verification Status | |||||||||||||||
Concluído | |||||||||||||||
| Property / Verification Status: Concluído / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Knowledge Architect | |||||||||||||||
| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Collection date | |||||||||||||||
13 August 2026
| |||||||||||||||
| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
Normal rank | |||||||||||||||
Latest revision as of 09:10, 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 |
||
| 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. |
Statements
CID11:ID_2089421143
0 references
dki-india-ID_2089421143
0 references
Concluído
0 references
13 August 2026
0 references
