Tylosis with esophageal cancer (TOC)is an inherited condition that increases the risk for esophageal cancer. The symptoms of TOC include thickening of the skin on the palms and soles of the feet (palmoplantar keratoderma) and white lesions inside the mouth. People with TOC are at very high risk to develop esophageal cancer. The palmoplantar keratoderma usually occurs in childhood, and esophageal cancer usually occurs in adulthood. TOC is caused by a variant in the RHBDF2 gene and is inherited in an autosomal dominant pattern. Diagnosis is based on the symptoms, clinical exam, and family history. The diagnosis may be confirmed by the results of genetic testing. Treatment is focused on managing the risk for esophageal cancer through screening and avoiding smoking and alcohol use.

RHBDF2 gene is not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.

Each child of an individual with an autosomal dominant condition has a 50% or 1 in 2 chance of inheriting the variant and the condition. Typically, children who inherit a dominant variant will have the condition, but they may be more or less severely affected than their parent. Sometimes a person may have a gene variant for an autosomal dominant condition and show no signs or symptoms of the condition.

Symptoms of tylosis with esophageal cancer may include:

• Thickened, yellowish skin on the palms and soles of the feet (palmoplantar keratoderma)
• White patches on the tongue, cheek, or mouth (oral leukoplakia)
• Esophageal cancer

The skin findings usually begin in childhood. Esophageal cancer usually develops by mid-adulthood. The symptoms of esophageal cancer may include difficulty swallowing, loss of appetite, and weight loss.

Tylosis with esophageal cancer is diagnosed based on the symptoms, clinical exam, and family history. It may be confirmed by the results of genetic testing. A small piece of an esophageal lesion may be removed for examination under the microscope (biopsy) to help diagnose cancer. Imaging studies may also be helpful.

Specialists involved in the care of someone with tylosis with esophageal cancer may include:

• Dermatologist
• Gastroenterologist
• Oncologist

Tylosis with esophageal cancer has only been reported in a few families worldwide. The exact number of people with this condition is unknown.