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Autosomal recessive anhidrotic ectodermal dysplasia: a rare entity.

Sangita Ghosh¹, Epsita Ghosh², Surabhi Dayal¹

¹Department of Skin and V.D., PGIMS, Rohtak, Haryana, India.

Indian Journal of Dermatology

|July 30, 2014

Summary

Anhidrotic ectodermal dysplasia (AED) can be inherited in an autosomal recessive pattern, affecting both males and females. This rare form is clinically similar to X-linked AED but has asymptomatic carriers.

Keywords:

Anhidrotic autosomal dysplasia ectodermal recessive

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Area of Science:

Genetics
Human Diseases
Pediatrics

Background:

Anhidrotic ectodermal dysplasia (AED) is a rare genetic disorder affecting ectodermal structures.
The X-linked recessive form (XL-AED) is the most common, primarily affecting males.
Autosomal recessive AED (AR-AED) is exceptionally rare and presents diagnostic challenges.

Purpose of the Study:

To report a case of autosomal recessive anhidrotic ectodermal dysplasia (AR-AED).
To highlight the clinical presentation and inheritance pattern of AR-AED in a family.
To differentiate AR-AED from the more common XL-AED.

Main Methods:

Clinical case description of a 2-year-old female child with suspected AED.
Pedigree analysis to determine the mode of inheritance.
Comparison of clinical features with known types of AED.

Main Results:

A diagnosis of AR-AED was established in a female child from consanguineous parents.
The affected child's sibling also presented with similar symptoms, indicating familial inheritance.
Heterozygous carriers of AR-AED were phenotypically asymptomatic, unlike carriers of XL-AED.

Conclusions:

AR-AED is a rare but significant diagnosis that can affect both sexes.
Autosomal recessive inheritance should be considered in cases of AED, especially in consanguineous families.
Understanding the inheritance patterns is crucial for genetic counseling and diagnosis.