Hereditary Ectodermal Dysplasia in Two Identical Siblings
| Autor: | Sarkar A. S., Rao K., Ajila V. |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2024 |
| Předmět: | |
| Zdroj: | Acta Medica Bulgarica, Vol 51, Iss s1, Pp 1-4 (2024) |
| Druh dokumentu: | article |
| ISSN: | 2719-5384 2024-0023 |
| DOI: | 10.2478/amb-2024-0023 |
| Popis: | Primary defects in two or more ectodermally-derived tissues during embryonic development characterize ectodermal dysplasia, a vast, varied group of inherited illnesses. Skin, hair, nails, eccrine glands, and teeth are the primary tissues affected. Most cases of ectodermal dysplasia are caused by the X-linked recessive form of the disease (also known as Christ–Siemens–Touraine syndrome), which is passed down from female carriers to their male offspring. It is characterized by an absence of sweat glands (hypohidrosis or anhidrosis), malformed teeth (anodontia or hypodontia), and scant hair (atrichosis or hypotrichosis). Lack of teeth and unusual look were cited as major causes for alarm. The usual manifestations of hypohidrotic hereditary ectodermal dysplasia have been described in two case reports. Two identical siblings with possible typically X-linked recessive hypohidrotic ectodermal dysplasia are described here. Despite the lack of a cure, patients can benefit from a multidisciplinary approach to treatment planning and an expedient diagnosis. |
| Databáze: | Directory of Open Access Journals |
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