International Journal of Science and Research (IJSR)

International Journal of Science and Research (IJSR)
Call for Papers | Fully Refereed | Open Access | Double Blind Peer Reviewed

ISSN: 2319-7064


Downloads: 115 | Views: 175

Case Studies | Medicine Science | India | Volume 4 Issue 9, September 2015


Hypohidrotic Ectodermal Dysplasia?A Rare Case Report in Siblings

Anagha Kumar [3]


Abstract: Hypohidrotic ectodermal dysplasia is a raregenetic disorder involving primordial germ cells of the hair, sweat glands, teeth and nails. Though the incidence is estimated to be I in one lakh, it is extremely rare in females due to X-linked inheritance. Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder characterized by the faulty development of the ectodermal structure, resulting in most notably anhydrosis/hypohydrosis, hypotrichosis and hypodontia. [1] This condition is usually an X-linked recessive disorder affecting predominantly males. [2] Mutations in the gene encoding ligand ectodysplasin A (EDA) underlie classic, X-linked recessive HED, whereas mutations in the genes encoding the EDA receptor and (less frequently) the adaptor protein that associates with the EDA receptor's death domain result in autosomal dominant and autosomal recessive forms of HED. Here is a rare case of hypohidrotic ectodermal dysplasia in a girl and her younger brother.


Keywords: ectodermal dysplasia, hypotrichosis, hypodontia, hypotrichosis, case report


Edition: Volume 4 Issue 9, September 2015,


Pages: 387 - 388


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