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Bathing suit ichthyosis: Two Burmese siblings and a review of the literature
Author(s) -
Li Wendy,
Oberlin Kate E.,
Wilson Theodore E.,
Haggstrom Anita N.
Publication year - 2019
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.14030
Subject(s) - ichthyosis , congenital ichthyosis , medicine , burmese , phenotype , genetics , bathing , genotype , dermatology , biology , pathology , gene , philosophy , linguistics
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.