Palmoplantar ectodermal dysplasia

Palmoplantar ectodermal dysplasia (also known as PPED) 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 other ectodermal tissues.

Symptoms and Signs

The primary symptoms of palmoplantar ectodermal dysplasia include thickened, scaly skin on the palms and soles (keratoderma), sparse hair (hypotrichosis), and abnormal nails (onychodystrophy). Other symptoms may include dental abnormalities, hearing loss, and vision problems.

Causes

Palmoplantar ectodermal dysplasia is caused by mutations in the genes that regulate the development and function of the skin and other ectodermal tissues. These mutations are usually inherited in an autosomal dominant manner, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

Diagnosis

Diagnosis of palmoplantar ectodermal dysplasia is based on the clinical symptoms and confirmed by genetic testing. The testing can identify mutations in the genes associated with this condition.

Treatment

There is currently no cure for palmoplantar ectodermal dysplasia. Treatment is symptomatic and supportive, and may include skin care to manage the keratoderma, as well as dental care, hearing aids, and vision aids as needed.

See also

• Ectodermal dysplasia
• Keratoderma
• Hypotrichosis
• Onychodystrophy

References

Palmoplantar ectodermal dysplasia Resources
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