Autosomal recessive anhidrotic ectodermal dysplasia: A rare entity | Zendy

Epsita Ghosh | Zendy; Surabhi Dayal | Zendy; Sangita Ghosh | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

Autosomal recessive anhidrotic ectodermal dysplasia: A rare entity

Author(s) -

Epsita Ghosh,

Surabhi Dayal,

Sangita Ghosh

Publication year - 2014

Publication title -

indian journal of dermatology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.395

H-Index - 36

eISSN - 1998-3611

pISSN - 0019-5154

DOI - 10.4103/0019-5154.135541

Subject(s) - ectodermal dysplasia , medicine , asymptomatic , autosomal recessive inheritance , heterozygote advantage , dermatology , pediatrics , genetics , genotype , pathology , gene , biology

We describe a case of anhidrotic ectodermal dysplasia (AED) with an autosomal recessive mode of inheritance, a very rare entity, in a 2-year-old female child of two asymptomatic, consanguineous parents. Their previous child also had a similar condition. Autosomal recessive AED (AR-AED) can have its full expression both in males and females and it is clinically indistinguishable from the x-linked recessive AED (XL-AED), which is the most common type of ectodermal dysplasia. Unlike the partially symptomatic carriers of XL-AED, the heterozygotes of AR-AED are phenotypically asymptomatic

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research