| Autor: |
Balci, Gokcen, Baskan, Sabiha Zelal, Akdeniz, Sedat |
| Předmět: |
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| Zdroj: |
International Dental & Medical Disorders; 2008, Vol. 1 Issue 1, p56-59, 4p, 3 Color Photographs, 1 Diagram |
| Abstrakt: |
We report four cases of ectodermal dysplasia. Three of them are hypohidrotic ectodermal dysplasia (HED) and other one is cleft lip/ palate syndrome. Each patient presented with hypohidrosis, sparse hair, oligodontia. Ectodermal dysplasias are genetic disorders that result in defective structure or function of two or more major derivatives of the ectoderm, which include the sweat glands, hair, teeth, and nails. Hypohidrotic ectodermal dysplasia represents a group of ectodermal dysplasias that are characterized by sparse or absent eccrine glands as well as by hypotrichosis and oligodontia with peg-shaped teeth. HED is caused by defects in the ectodysplasin signal transduction pathway. Cleft lip/ palate syndrome; the inheritance of this syndrome is probably determined by an autosomal recessive gene. The scalp hair is often fine, dry, sparse and light in colour; the nails are dystrophic and teeth are few and small. Other features are cleft lip and palate, hypohidrosis and defects of the external genitalia. [ABSTRACT FROM AUTHOR] |
| Databáze: |
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