Bathing suit ichthyosis: Two Burmese siblings and a review of the literature

Wendy Li, Kate E. Oberlin, Theodore E. Wilson, Anita N. Haggstrom

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
JournalPediatric Dermatology
DOIs
StateAccepted/In press - Jan 1 2019

Fingerprint

Ichthyosis
Siblings
Phenotype
Temperature
Genes

Keywords

  • bathing suit ichthyosis
  • lamellar ichthyosis
  • temperature sensitive ichthyosis
  • TGM1
  • transglutaminase 1

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Dermatology

Cite this

Bathing suit ichthyosis : Two Burmese siblings and a review of the literature. / Li, Wendy; Oberlin, Kate E.; Wilson, Theodore E.; Haggstrom, Anita N.

In: Pediatric Dermatology, 01.01.2019.

Research output: Contribution to journalArticle

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