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

Dharshini Sathishkumar; Dincy Peter; Susanne Pulimood; Henning Wiegmann; Frederic Valentin; Meera Thomas; H. C. Hennies; Vinzenz Oji

doi:10.1155/2018/3140473

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

Dharshini Sathishkumar, Dincy Peter, Susanne Pulimood, Henning Wiegmann, Frederic Valentin, Meera Thomas, H. C. Hennies, Vinzenz Oji

Research output: Contribution to journal › Article › peer-review

Abstract

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 forc.1147G>A; patient 2: compound heterozygous for c.832G>A, c.919C>G).

Original language	English
Article number	3140473
Pages (from-to)	1-4
Number of pages	4
Journal	Case Reports in Dermatological Medicine
Volume	2018
DOIs	https://doi.org/10.1155/2018/3140473
Publication status	Published - 30 Dec 2018

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SDG 3 Good Health and Well-being

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Manuscript_04_11_supplementAccepted author manuscript, 3.8 MBLicence: CC BY

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title = "Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian patients",

abstract = "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 {\textquoteleft}bathing suit{\textquoteright} areas. We report two Indian girls with bathing suit ichthyosis and mutations in TGM1 (patient 1: homozygous forc.1147G>A; patient 2: compound heterozygous for c.832G>A, c.919C>G). ",

keywords = "Autosomal recessive congenital ichthyosis, Gene environment interaction, Transglutaminase-1, MeDOC, BSI",

author = "Dharshini Sathishkumar and Dincy Peter and Susanne Pulimood and Henning Wiegmann and Frederic Valentin and Meera Thomas and Hennies, \{H. C.\} and Vinzenz Oji",

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T1 - Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian patients

AU - Sathishkumar, Dharshini

AU - Peter, Dincy

AU - Pulimood, Susanne

AU - Wiegmann, Henning

AU - Valentin, Frederic

AU - Thomas, Meera

AU - Hennies, H. C.

AU - Oji, Vinzenz

PY - 2018/12/30

Y1 - 2018/12/30

N2 - 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 forc.1147G>A; patient 2: compound heterozygous for c.832G>A, c.919C>G).

AB - 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 forc.1147G>A; patient 2: compound heterozygous for c.832G>A, c.919C>G).

KW - Autosomal recessive congenital ichthyosis

KW - Gene environment interaction

KW - Transglutaminase-1

KW - MeDOC, BSI

U2 - 10.1155/2018/3140473

DO - 10.1155/2018/3140473

M3 - Article

SN - 2090-6463

VL - 2018

SP - 1

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JO - Case Reports in Dermatological Medicine

JF - Case Reports in Dermatological Medicine

M1 - 3140473

ER -

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

Abstract

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