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Genetic and Rare Diseases Information Center (GARD)

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Tylosis with esophageal cancer

Other Names for this Disease
  • Howel-Evans syndrome
  • Keratosis palmaris et plantaris with esophageal cancer
  • Keratosis palmoplantaris with esophageal cancer
  • TOC
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Your Question

My 61-year-old sister has been told she has Howel-Evans syndrome. Where can we get some information that explains this condition and its treatment?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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.[1][2][3]
Last updated: 1/18/2013

What are the signs and symptoms of Tylosis with esophageal cancer?

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.[4]
Last updated: 1/18/2013

What causes Tylosis with esophageal cancer?

Mutations in the RHBDF2 gene have been shown to cause the development of this condition. [5][2][3]
Last updated: 1/18/2013

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.[1] Affected individuals typically have one parent with the condition.
Last updated: 1/18/2013

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.[1] For the palmoplantar keratoderma, a dermatologist may recommend oral retinoids such as etretinate, isotretinoin, and acitretin.[4] 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.[4]
Last updated: 1/18/2013

  • Spitz JL. Genodermatoses: A clinical guide to genetic skin disorders. Philadelphia: Lippincott Williams & WIlkins; 2005;
  • Saarinen S, Vahteristo P, Lehtonen R, Aittomäki K, Launonen V, Kiviluoto T, Aaltonen LA.. Fam Cancer. 2012 Sep;11; Accessed 1/18/2013.
  • Blaydon DC, Etheridge SL, Risk JM, Hennies HC, Gay LJ, Carroll R, Plagnol V, McRonald FE, Stevens HP, Spurr NK, Bishop DT, Ellis A, Jankowski J, Field JK, Leigh IM, South AP, Kelsell DP.. Am J Hum Genet. 2012 Feb 10; Accessed 1/18/2013.
  • Sybert VP. Genetic Skin Disorders. New York: Oxford University Press; 1997;
  • Tylosis with esophageal cancer. OMIM Database. July 10, 2009; Accessed 4/6/2010.