Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian Patients
Joint Authors
Sathishkumar, Dharshini
Peter, Dincy
Pulimood, Susanne
Wiegmann, Henning
Valentin, Frederic
Thomas, Meera
Hennies, Hans Christian
Oji, Vinzenz
Source
Case Reports in Dermatological Medicine
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-12-30
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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).
American Psychological Association (APA)
Sathishkumar, Dharshini& Peter, Dincy& Pulimood, Susanne& Wiegmann, Henning& Valentin, Frederic& Thomas, Meera…[et al.]. 2018. Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian Patients. Case Reports in Dermatological Medicine،Vol. 2018, no. 2018, pp.1-4.
https://search.emarefa.net/detail/BIM-1142794
Modern Language Association (MLA)
Sathishkumar, Dharshini…[et al.]. Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian Patients. Case Reports in Dermatological Medicine No. 2018 (2018), pp.1-4.
https://search.emarefa.net/detail/BIM-1142794
American Medical Association (AMA)
Sathishkumar, Dharshini& Peter, Dincy& Pulimood, Susanne& Wiegmann, Henning& Valentin, Frederic& Thomas, Meera…[et al.]. Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian Patients. Case Reports in Dermatological Medicine. 2018. Vol. 2018, no. 2018, pp.1-4.
https://search.emarefa.net/detail/BIM-1142794
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1142794