Bathing suit ichthyosis: Two Burmese siblings and a review of the literature.
Pediatr Dermatol
; 37(1): 165-170, 2020 Jan.
Article
em En
| MEDLINE
| ID: mdl-31631373
ABSTRACT
Bathing suit ichthyosis (BSI) is a subtype of autosomal recessive congenital ichthyosis (ARCI) characterized by the development of large platelike scales mainly limited to the trunk. It is caused by temperature sensitive variants in transglutaminase 1, encoded by the gene TGM1. We describe a rare case of intrafamilial variation in phenotypic expressivity in two Burmese siblings with BSI that demonstrates the heterogeneity of the disorder within the same family and even in the same individual across time. We also present a concise review of the genotypic spectrum of BSI from 54 cases reported in the literature as evidence that both environmental and additional genetic factors can significantly alter the clinical phenotype.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Transglutaminases
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Eritrodermia Ictiosiforme Congênita
/
Ictiose Lamelar
Tipo de estudo:
Diagnostic_studies
Limite:
Child
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Female
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Humans
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Infant
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Male
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article