Open AccessAutosomal recessive anhidrotic ectodermal dysplasia: A rare entity
Author(s) -
Shobha Ghosh,
Epsita Ghosh,
Surabhi Dayal
Publication year - 2014
Publication title -
indian journal of dermatology/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