Article
Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.
JAMA dermatology - 1 Jun 2017
Marukian Nareh V, Hu Rong-Hua, Craiglow Brittany G, Milstone Leonard M, Zhou Jing, Theos Amy, Kaymakcalan Hande, Akkaya Deniz A, Uitto Jouni J, Vahidnezhad Hassan, Youssefian Leila, Bayliss Susan J, Paller Amy S, Boyden Lynn M, Choate Keith A
Abstract excerpt
Importance: Bathing suit ichthyosis (BSI) is a rare congenital disorder of keratinization characterized by restriction of scale to sites of relatively higher temperature such as the trunk, with cooler areas remaining unaffected. Fewer than 40 cases have been reported in the literature. Bathing suit ichthyosis is caused by recessive, temperature-sensitive mutations in the transglutaminase-1 gene (TGM1). Clear...
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