Howel-Evans Syndrome

Condition 101

What is the definition of Howel-Evans Syndrome?

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.;in the RHBDF2 gene ...

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What are the alternative names for Howel-Evans Syndrome?

  • TOC
  • Keratosis palmoplantaris with esophageal cancer
  • Howel-Evans syndrome
  • Keratosis palmaris et plantaris with esophageal cancer
  • Howell-Evans syndrome
  • Keratosis palmoplantaris-esophageal carcinoma syndrome
  • Palmoplantar hyperkeratosis-esophageal carcinoma syndrome
  • Tylosis - oesophageal carcinoma
  • Tylosis-oesophageal carcinoma syndrome
  • Palmoplantar keratoderma-esophageal carcinoma syndrome
  • Bennion-Patterson syndrome

What are the causes for Howel-Evans Syndrome?

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

What are the symptoms for Howel-Evans Syndrome?

The main features of Tylosis with esophageal cancer are palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and the soles of the feet are usually more severely affected that the palms of the hands. Esophageal carcinoma usually develops in the lower two-thirds of the esophagus at an average age of 45 years.

What are the current treatments for Howel-Evans Syndrome?

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.

Is Howel-Evans Syndrome an inherited disorder?

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.

Data Source : GARD