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Hypohidrotic ectodermal dysplasia with autosomal inheritance: A rare entity
| Content Provider | Scilit |
|---|---|
| Author | Lodha, Ayushi Someshwar, Shylaja |
| Copyright Year | 2019 |
| Abstract | 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. |
| Related Links | https://www.mjmsr.net/article.asp?issn=0975-9727;year=2019;volume=10;issue=2;spage=82;epage=85;aulast=Lodha;type=2 |
| File Format | XHTML |
| ISSN | 09759727 |
| DOI | 10.4103/mjmsr.mjmsr_41_19 |
| Journal | Muller Journal of Medical Sciences and Research |
| Issue Number | 2 |
| Volume Number | 10 |
| Language | English |
| Publisher | Medknow |
| Publisher Date | 2019-01-01 |
| Access Restriction | Open |
| Subject Keyword | Autosomal Recessive Hypohidrotic Ectodermal Dysplasia X-linked Muller Journal of Medical Sciences and Research, Volume 10, Issue 2 |
| Content Type | Text |
| Resource Type | Article |
