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Year : 2019  |  Volume : 10  |  Issue : 2  |  Page : 82-85

Hypohidrotic ectodermal dysplasia with autosomal inheritance: A rare entity

Department of Dermatology, Venereology and Leprology, MGM Medical College, Navi Mumbai, Maharashtra, India

Correspondence Address:
Dr. Shylaja Someshwar
Department of Dermatology, Venereology and Leprology, MGM Medical College, Navi Mumbai - 410 209, Maharashtra
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/mjmsr.mjmsr_41_19

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Hypohidrotic ectodermal dysplasia (HED) is a rare disorder which is characterized by the involvement of all ectodermal derivatives and marked deficiency of sweating. It has a prevalence of 1: 100,000. X-linked recessive fashion is the most common pattern of inheritance, and 90% of the individuals affected are males. Autosomal dominant and recessive forms of this disease are very rare. Here, a 24-year-old female presented with classical features of HED: sparse lusterless hair, everted lips, and artificial dentures with a history of hypodontia in childhood. Patient's niece had complaints of decreased hair growth and sweating since birth. The patient also gave a history of similar complaints in great grandmother. Hence, we present an uncommon scenario where three females of an extended family were affected with HED and had symptoms of varying severity.

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