| CASE REPORT |
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| Year : 2019 | Volume
: 10
| Issue : 2 | Page : 82-85 |
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Hypohidrotic ectodermal dysplasia with autosomal inheritance: A rare entity
Ayushi Lodha, Shylaja Someshwar
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
India
 Source of Support: None, Conflict of Interest: None  | Check |
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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