Tylosis

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Tylosis

Tylosis (pronounced: tie-LOH-sis) is a rare, genetic skin condition characterized by thickening of the skin on the palms of the hands and soles of the feet. It is also known as palmoplantar keratoderma.

Etymology

The term 'Tylosis' is derived from the Greek word 'tylos' meaning callus or hard skin, referring to the primary symptom of the condition.

Symptoms

The main symptom of Tylosis is the thickening of the skin on the palms and soles, which can cause discomfort and difficulty in walking or using the hands. Other symptoms may include dryness, redness, and itching. In some cases, Tylosis may be associated with an increased risk of esophageal cancer.

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 the normal functioning of this protein, leading to the abnormal thickening of the skin seen in Tylosis.

Diagnosis

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

Treatment

Treatment for Tylosis primarily involves managing the symptoms. This may include the use of moisturizers and keratolytic agents to soften and remove the thickened skin. In some cases, surgery may be necessary to relieve discomfort or improve mobility.

Related Terms

External links

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