Ectodermal Dysplasia

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Ectodermal Dysplasia

Ectodermal Dysplasia (pronounced: ek-toh-der-mal dis-play-zee-uh) is a group of inherited disorders that primarily affect the ectodermal structures such as the skin, hair, nails, teeth, and sweat glands. The term is derived from the Greek words 'ektos' meaning 'outside', 'derma' meaning 'skin', and 'dysplasia' meaning 'abnormal growth or development'.

Symptoms

The symptoms of Ectodermal Dysplasia can vary widely among individuals. Common symptoms include hypohidrosis (reduced ability to sweat), hypotrichosis (sparse hair), hypodontia (missing teeth), and onychodysplasia (abnormal nail growth). Other symptoms may include dry skin, respiratory problems, and sensitivity to heat.

Causes

Ectodermal Dysplasia is caused by mutations in various genes that are involved in the development and function of the ectoderm. These mutations are usually inherited in an autosomal recessive or x-linked recessive manner.

Diagnosis

Diagnosis of Ectodermal Dysplasia is typically based on the physical symptoms, medical history, and may be confirmed through genetic testing. Other diagnostic tools may include dental X-rays to identify missing or malformed teeth, and skin biopsy to examine the structure and function of the skin and sweat glands.

Treatment

There is currently no cure for Ectodermal Dysplasia. Treatment is symptomatic and supportive, and may include dental prosthetics for missing teeth, special skin care routines to manage dry skin, and measures to prevent overheating due to reduced sweating.

See Also

External links

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