ISSN - 0973-0958

Pediatric Oncall Journal View Article

Lamellar Ichthyosis in a Female Neonate with a Novel Mutation on TGM1 Gene
Ana Francisca Henriques Cardoso1, Flávia Oliveira Belinha2, Ana Ratola3, Raquel Henriques3.
1Pediatric Department, Centro Hospitalar de Leiria, Leiria, Portugal,
2Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal,
3Maternidade Daniel de Matos, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
Abstract
Congenital ichthyosis comprise a group of genetic disorders caused by mutations in the keratinocyte differentiation and consequent disruption of the skin barrier function. Autosomal recessive congenital ichthyosis is a heterogeneous, non-syndromic subgroup characterized by a defect in skin cornification, hyperkeratosis, scaling and erythroderma. The term collodion baby encompasses neonates wrapped at birth in a shiny collodion membrane that peels away in the first weeks of life and is gradually replaced by the definitive phenotype. We report a case of a collodion baby that progressed to a lamellar ichthyosis (LI) with a novel mutation of the TGM1 gene that has not been reported in the literature. This case highlights the need to expand the spectrum of TGM1 mutations in order to understand the etiopathogenesis of LI.

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