Hypohydrotic Ectodermal Dysplasia in an Indian Family

• Published in: Journal of the College of Physicians and Surgeons--Pakistan Vol. 29; no. 4; pp. 381 - 383
• Main Authors: Gupta, Anish A, Gotmare, Swati S, Jain, Megha, Pereira, Treville, Khare, Pooja
• Format: Journal Article
• Language: English
• Published: Pakistan College of Physicians and Surgeons Pakistan 01-04-2019
• Subjects: Ectodermal dysplasia; Family; Genetic aspects; India
• ISSN: 1022-386X; 1681-7168
• DOI: 10.29271/jcpsp.2019.04.381

Hereditary ectodermal dysplasia (HED) is a rare genetic disorder chiefly affecting ectodermally derived structures including hair, nails, sweat glands etc. with pathognomic manifestations such as hypotrichosis, hypohidrosis, and hypodontia. Hypohidrotic ectodermal dysplaisa, being the most frequently encountered subtype and HED, being the rare subtype. HED is primarily transmitted through X-linked recessive trait in which the gene is carried by the female and manifested in male. Although rare, this disorder may be seen affecting lot of members of the same family. We hereby report a series of four cases with common classical manifestations accompanied with spoon shaped nails, hyperpigmentation, oligodontia and hypotrichosis. The patients were treated for prosthetic rehabilitation and were asked to wear cool clothing.