Incontinentia pigmenti (Q46643): Difference between revisions
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Incontinentia pigmenti é um transtorno genético dominante ligado ao X devido a anormalidades do gene NF-kappa-B (NEMO) no cromossomo Xq28. É letal em fetos do sexo masculino, mas a presença de um segundo cromossomo X normal em fetos do sexo feminino resulta em um mosaicismo compatível com a vida. Indivíduos do do sexo feminino afetados apresentam-se na infância com bolhas na pele em arranjos lineares (linhas de Blaschko), tipicamente em couro cabeludo e membros. Nos primeiros meses de vida, estas bolhas são sucedidas por alterações verrucosas e hiperpigmentação. Isto tende a se resolver com o tempo, frequentemente deixando estrias atróficas. Características associadas incluem dentição anormal, defeitos oculares e uma gama de complicações neurológicas. | |||
| description / en | description / en | ||
Incontinentia pigmenti is an X-linked dominant gene disorder due to abnormalities of the NF-kappa-B (NEMO) gene on chromosome Xq28. It is lethal in male fetuses but the presence of a normal second X chromosome in females results in a mosaicism which is compatible with life. Affected females present in infancy with skin blisters in linear arrays (Blaschko lines) typically on the scalp and limbs. Within the first few months of life these are succeeded by warty changes and hyperpigmentation. These tend to resolve over time, often leaving atrophic streaks. Associated features include abnormal dentition, ocular defects and a variety of neurological complications. | |||
Revision as of 15:22, 13 August 2026
Incontinentia pigmenti is an X-linked dominant gene disorder due to abnormalities of the NF-kappa-B (NEMO) gene on chromosome Xq28. It is lethal in male fetuses but the presence of a normal second X chromosome in females results in a mosaicism which is compatible with life. Affected females present in infancy with skin blisters in linear arrays (Blaschko lines) typically on the scalp and limbs. Within the first few months of life these are succeeded by warty changes and hyperpigmentation. These tend to resolve over time, often leaving atrophic streaks. Associated features include abnormal dentition, ocular defects and a variety of neurological complications.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | LD27.00 |
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| English | Incontinentia pigmenti |
Incontinentia pigmenti is an X-linked dominant gene disorder due to abnormalities of the NF-kappa-B (NEMO) gene on chromosome Xq28. It is lethal in male fetuses but the presence of a normal second X chromosome in females results in a mosaicism which is compatible with life. Affected females present in infancy with skin blisters in linear arrays (Blaschko lines) typically on the scalp and limbs. Within the first few months of life these are succeeded by warty changes and hyperpigmentation. These tend to resolve over time, often leaving atrophic streaks. Associated features include abnormal dentition, ocular defects and a variety of neurological complications. |
