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 journalArticle

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 languageEnglish
Article number3140473
Pages (from-to)1-4
Number of pages4
JournalCase Reports in Dermatological Medicine
Volume2018
DOIs
Publication statusPublished - 30 Dec 2018

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Ichthyosis
Mutation
Genes
Phenotype
Temperature
transglutaminase 1

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Sathishkumar, D., Peter, D., Pulimood, S., Wiegmann, H., Valentin, F., Thomas, M., ... Oji, V. (2018). Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian patients. Case Reports in Dermatological Medicine, 2018, 1-4. [3140473]. https://doi.org/10.1155/2018/3140473
Sathishkumar, Dharshini ; Peter, Dincy ; Pulimood, Susanne ; Wiegmann, Henning ; Valentin, Frederic ; Thomas, Meera ; Hennies, H. C. ; Oji, Vinzenz. / Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian patients. In: Case Reports in Dermatological Medicine. 2018 ; Vol. 2018. pp. 1-4.
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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).",
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Sathishkumar, D, Peter, D, Pulimood, S, Wiegmann, H, Valentin, F, Thomas, M, Hennies, HC & Oji, V 2018, 'Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian patients', Case Reports in Dermatological Medicine, vol. 2018, 3140473, pp. 1-4. https://doi.org/10.1155/2018/3140473

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, H. C.; Oji, Vinzenz.

In: Case Reports in Dermatological Medicine, Vol. 2018, 3140473, 30.12.2018, p. 1-4.

Research output: Contribution to journalArticle

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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

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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

VL - 2018

SP - 1

EP - 4

JO - Case Reports in Dermatological Medicine

JF - Case Reports in Dermatological Medicine

SN - 2090-6471

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ER -