Tylosis

Tylosis is a rare, autosomal dominant genetic disorder that is characterized by the thickening of the skin on the palms of the hands and soles of the feet. This condition is also associated with an increased risk of esophageal cancer.

Symptoms and Signs

The primary symptom of Tylosis is the thickening of the skin on the palms and soles, which typically begins in late childhood or early adolescence. Other symptoms may include dry skin, itching, and pain. In some cases, the thickened skin can crack and become infected.

Causes

Tylosis is caused by mutations in the RHBDF2 gene. This gene provides instructions for making a protein that is involved in the growth and division of cells. Mutations in the RHBDF2 gene disrupt this process, leading to the thickening of the skin seen in Tylosis.

Diagnosis

Diagnosis of Tylosis is based on the clinical symptoms and a family history of the condition. Genetic testing can confirm the diagnosis.

Treatment

There is currently no cure for Tylosis. Treatment is focused on managing the symptoms and includes the use of moisturizers and keratolytic agents to soften the thickened skin. Regular screening for esophageal cancer is also recommended due to the increased risk associated with this condition.

See Also

• List of genetic disorders
• List of skin conditions

References

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