1.
Pediatr Dermatol
; 37(1): 165-170, 2020 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31631373
RESUMO
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.
Assuntos
Eritrodermia Ictiosiforme Congênita/genética , Ictiose Lamelar/genética , Transglutaminases/genética , Criança , Feminino , Humanos , Eritrodermia Ictiosiforme Congênita/diagnóstico , Eritrodermia Ictiosiforme Congênita/cirurgia , Ictiose Lamelar/diagnóstico , Ictiose Lamelar/terapia , Lactente , Masculino , Mutação , Irmãos
2.
Acta Derm Venereol
; 100(17): adv00285, 2020 Oct 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32965503