Familial progressive hyper- and hypopigmentation (Q98797): Difference between revisions
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A hiper e hipopigmentação progressiva familiar é um transtorno autossômico dominante da pigmentação da pele, caracterizado por hipermelanose manchada difusa progressiva acompanhada de múltiplas máculas café-com-leite, máculas hipomelanóticas e lentigos. Acredita-se que seja devida a mutações no gene ligante KIT, cujas mutações também estão implicadas na discromatose universal hereditária. | |||
| description / en | description / en | ||
Familial progressive hyper- and hypopigmentation is an autosomal dominant disorder of skin pigmentation characterised by progressive diffuse blotchy hypermelanosis accompanied by multiple café-au-lait macules, hypomelanotic macules and lentigines. It is thought to be due to mutations in the KIT ligand gene, mutations of which are also implicated in hereditary universal dyschromatosis. | |||
Revision as of 15:24, 16 August 2026
Familial progressive hyper- and hypopigmentation is an autosomal dominant disorder of skin pigmentation characterised by progressive diffuse blotchy hypermelanosis accompanied by multiple café-au-lait macules, hypomelanotic macules and lentigines. It is thought to be due to mutations in the KIT ligand gene, mutations of which are also implicated in hereditary universal dyschromatosis.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1229773662 |
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| English | Familial progressive hyper- and hypopigmentation |
Familial progressive hyper- and hypopigmentation is an autosomal dominant disorder of skin pigmentation characterised by progressive diffuse blotchy hypermelanosis accompanied by multiple café-au-lait macules, hypomelanotic macules and lentigines. It is thought to be due to mutations in the KIT ligand gene, mutations of which are also implicated in hereditary universal dyschromatosis. |
