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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.
Afiliación
  • Sathishkumar D; Department of Dermatology Venereology and Leprosy, Christian Medical College, Vellore, India.
  • Peter D; Department of Dermatology Venereology and Leprosy, Christian Medical College, Vellore, India.
  • Pulimood S; Department of Dermatology Venereology and Leprosy, Christian Medical College, Vellore, India.
  • Wiegmann H; Department of Dermatology, University Hospital Muenster, Muenster, Germany.
  • Valentin F; Department of Dermatology, University Hospital Muenster, Muenster, Germany.
  • Thomas M; Department of Dermatology Venereology and Leprosy, Christian Medical College, Vellore, India.
  • Hennies HC; Center for Dermatogenetics, Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
  • Oji V; Cologne Center for Genomics, Division of Dermatogenetics, University of Cologne, Germany.
Case Rep Dermatol Med ; 2018: 3140473, 2018.
Article en En | MEDLINE | ID: mdl-30693114
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).

Texto completo: 1 Bases de datos: MEDLINE Idioma: En Revista: Case Rep Dermatol Med Año: 2018 Tipo del documento: Article País de afiliación: India

Texto completo: 1 Bases de datos: MEDLINE Idioma: En Revista: Case Rep Dermatol Med Año: 2018 Tipo del documento: Article País de afiliación: India