Ectodermal dysplasia: Report of two cases in a family and literature review.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 31041288.
- Also identified by DOI 10.4103/jfmpc.jfmpc_48_19 and PMC identifier 6482801.
- Licence recorded as CC BY-NC-SA.
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Abstract
Ectodermal dysplasia (ED) is a inherited genetic disorder with manifestations of abnormalities in more than one ectodermal derivatives like skin, hair, nails, exocrine glands and teeth. There are more than 150 different variants of ED described in literature. The condition is thought to occur in approximately 1 in every 100,000 live births. It mainly manifests in two types i.e. Hypohidrotic (Anhidrotic) type and Hydrotic type depending on degree of sweat gland function. This report presents two cases within a family, a 4 year old boy and a 6 year old girl with typical features of Hypohidrotic Hereditary ED i.e, hypodontia, hypohidrosis and hypotrichosis.