Ectodermal dysplasia: a case study of a toddler reported to a tertiary care hospital.

Yıl 2012, Cilt: 4 Sayı: 2, 1 - 4, 26.05.2012

Anand Kumar Anand Kumar K Praveen Praveen Kumar Ba

Öz

We reported a rare case of Ectodermal dysplasia in a young child born to a consanguineous married couple presented to a tertiary health care centre characterized by triad of defects of partial or complete absence of sweat glands, anomalous dentition and hypotrichosis. There are four types, of which X-linked recessive type is the most common. The basic defect is in non development or under development of certain ectodermal structures namely the skin and its appendages and the teeth. Diagnosis is usually clinical, but can be confirmed by skin biopsy which shows deficiency of sweat glands and other skin appendages. These patients have a normal life expectancy if they avoid exposure to hot environments.

Anahtar Kelimeler

Ectodermal dysplasia, Anhidrosis, Anodontia, Hypotrichosis, Toddler

Kaynakça

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