Tylosis with esophageal cancer

What causes Tylosis with esophageal cancer?

Mutations in the RHBDF2 gene have been shown to cause the development of this condition.

Last updated on 05-01-20

How is Tylosis with esophageal cancer inherited?

This condition has an autosomal dominant pattern of inheritance, which means that a mutation in one copy of the altered gene in each cell is sufficient to cause the disorder. Affected individuals typically have one parent with the condition.

Last updated on 05-01-20

What is Tylosis with esophageal cancer?

Tylosis with esophageal cancer (TOC) is an inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern.

Last updated on 05-01-20

How might Tylosis with esophageal cancer be treated?

Affected individuals may have periodic endoscopic and oral cavity evaluations by a gastroentrologist to detect esophageal cancer. For the palmoplantar keratoderma, a dermatologist may recommend oral retinoids such as etretinate, isotretinoin, and acitretin. Topical therapies may include soaking in salt water and then gentle removal of dead tissue (debridement) and 50% propylene glycol in water under plastic dressing overnight weekly.

Last updated on 05-01-20


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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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