Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian Patients

Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) due to transglutaminase-1 gene (TGM1) mutations leading to a temperature sensitive phenotype. It is characterized by dark-grey or brownish scaling restricted to the “bathing suit” areas. We report two...

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Autores principales: Sathishkumar, Dharshini, Peter, Dincy, Pulimood, Susanne, Wiegmann, Henning, Valentin, Frederic, Thomas, Meera, Hennies, Hans Christian, Oji, Vinzenz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6332984/
https://www.ncbi.nlm.nih.gov/pubmed/30693114
http://dx.doi.org/10.1155/2018/3140473
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author Sathishkumar, Dharshini
Peter, Dincy
Pulimood, Susanne
Wiegmann, Henning
Valentin, Frederic
Thomas, Meera
Hennies, Hans Christian
Oji, Vinzenz
author_facet Sathishkumar, Dharshini
Peter, Dincy
Pulimood, Susanne
Wiegmann, Henning
Valentin, Frederic
Thomas, Meera
Hennies, Hans Christian
Oji, Vinzenz
author_sort Sathishkumar, Dharshini
collection PubMed
description Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) due to transglutaminase-1 gene (TGM1) mutations leading to a temperature sensitive phenotype. It is characterized by dark-grey or brownish scaling restricted to the “bathing suit” areas. We report two Indian girls with bathing suit ichthyosis and mutations in TGM1 (patient 1: homozygous for c.1147G>A; patient 2: compound heterozygous for c.832G>A, c.919C>G).
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spelling pubmed-63329842019-01-28 Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian Patients Sathishkumar, Dharshini Peter, Dincy Pulimood, Susanne Wiegmann, Henning Valentin, Frederic Thomas, Meera Hennies, Hans Christian Oji, Vinzenz Case Rep Dermatol Med Case Report Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) due to transglutaminase-1 gene (TGM1) mutations leading to a temperature sensitive phenotype. It is characterized by dark-grey or brownish scaling restricted to the “bathing suit” areas. We report two Indian girls with bathing suit ichthyosis and mutations in TGM1 (patient 1: homozygous for c.1147G>A; patient 2: compound heterozygous for c.832G>A, c.919C>G). Hindawi 2018-12-30 /pmc/articles/PMC6332984/ /pubmed/30693114 http://dx.doi.org/10.1155/2018/3140473 Text en Copyright © 2018 Dharshini Sathishkumar et al. https://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Sathishkumar, Dharshini
Peter, Dincy
Pulimood, Susanne
Wiegmann, Henning
Valentin, Frederic
Thomas, Meera
Hennies, Hans Christian
Oji, Vinzenz
Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian Patients
title Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian Patients
title_full Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian Patients
title_fullStr Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian Patients
title_full_unstemmed Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian Patients
title_short Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian Patients
title_sort bathing suit variant of autosomal recessive congenital ichthyosis (arci) in two indian patients
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6332984/
https://www.ncbi.nlm.nih.gov/pubmed/30693114
http://dx.doi.org/10.1155/2018/3140473
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