Clinical Variability in Familial X-Linked Hypohidrotic Ectodermal Dysplasia with 2q12Mutation: A Rare Case Report of Female Siblings Agony

نویسندگان

  • Nidhi Chhabra
  • Anuj Chhabra
  • Ruchi Mehta
چکیده

Ectodermal dysplasia is a heterogeneous hereditary disorder characterized by aplasia or dysplasia of tissues of ectodermal origin, such as skin, hair, teeth, and sweat glands and nails [1]. Ectodermal dysplasia syndrome was first described by Thurman in 1848 [2]. Although about 170 different subtypes of Ectodermal dysplasia have been recognized, these disorders are considered to be relatively rare with an estimated incidence of 1 case per 100,000 [3].

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تاریخ انتشار 2017