Palmoplantar ectodermal dysplasia

Palmoplantar Ectodermal Dysplasia

Palmoplantar ectodermal dysplasia (pronounced: pal-mo-plan-tar ek-to-der-mal dis-play-zee-uh) is a rare genetic disorder characterized by abnormalities in the skin on the palms of the hands and the soles of the feet, as well as abnormalities in the hair, teeth, and nails.

Etymology

The term "palmoplantar" is derived from the Latin words palma meaning palm of the hand, and planta meaning sole of the foot. "Ectodermal" refers to the ectoderm, the outermost layer of cells or tissue of an embryo in early development, and "dysplasia" comes from the Greek dys meaning bad or difficult, and plasis meaning formation.

Symptoms

Symptoms of palmoplantar ectodermal dysplasia can vary greatly among individuals. Common symptoms include hyperkeratosis (thickening of the skin) on the palms and soles, sparse or absent hair (alopecia), abnormal or missing teeth, and nail dystrophy (abnormal nail formation).

Causes

Palmoplantar ectodermal dysplasia is caused by mutations in various genes that are involved in the development and function of the ectoderm, the layer of the embryo that develops into the skin, hair, nails, teeth, and sweat glands.

Diagnosis

Diagnosis of palmoplantar ectodermal dysplasia is based on the clinical symptoms, and can be confirmed by genetic testing.

Treatment

There is currently no cure for palmoplantar ectodermal dysplasia. Treatment is symptomatic and supportive, and may include skin care to manage the hyperkeratosis, dental care to manage the dental abnormalities, and wigs or hairpieces for those with alopecia.

Related Terms

• Ectodermal dysplasia
• Hyperkeratosis
• Alopecia
• Dental abnormalities
• Nail dystrophy

External links

• Medical encyclopedia article on Palmoplantar ectodermal dysplasia
• Wikipedia's article - Palmoplantar ectodermal dysplasia

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