Hypohidrotic ectodermal dysplasia
Hypohidrotic ectodermal dysplasia (pronounced: hypo-hi-dro-tic ecto-dermal dys-pla-sia) is a rare genetic disorder that affects the development and function of the teeth, sweat glands, and hair.
Etymology
The term "Hypohidrotic" is derived from the Greek words "hypo" meaning "under" and "hidros" meaning "sweat". "Ectodermal" refers to the ectoderm, one of the three primary germ layers in the very early embryo. The ectoderm produces the hair, skin, nails, enamel of the teeth, and the lens of the eye. "Dysplasia" is a term used in pathology to refer to an abnormality in maturation of cells within a tissue.
Symptoms
The most common symptoms of Hypohidrotic ectodermal dysplasia include:
- Hypohidrosis (reduced ability to sweat)
- Hypotrichosis (sparse hair)
- Hypodontia (missing teeth)
Causes
Hypohidrotic ectodermal dysplasia is caused by mutations in the EDA, EDAR, and EDARADD genes. These genes provide instructions for making proteins that work together during embryonic development.
Diagnosis
Diagnosis of Hypohidrotic ectodermal dysplasia is based on the clinical symptoms. Genetic testing can confirm the diagnosis.
Treatment
Treatment for Hypohidrotic ectodermal dysplasia is symptomatic and supportive. This may include dental implants to replace missing teeth, and measures to keep the skin moisturized and prevent overheating.
See also
External links
- Medical encyclopedia article on Hypohidrotic ectodermal dysplasia
- Wikipedia's article - Hypohidrotic ectodermal dysplasia
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