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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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Overview

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

References

  1. Spitz JL. Genodermatoses: A clinical guide to genetic skin disorders. Philadelphia: Lippincott Williams & WIlkins; 2005;
  2. Saarinen S, Vahteristo P, Lehtonen R, Aittomäki K, Launonen V, Kiviluoto T, Aaltonen LA.. Fam Cancer. 2012 Sep;11; http://www.ncbi.nlm.nih.gov/pubmed/22638770. Accessed 1/18/2013.
  3. 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; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3276661/. Accessed 1/18/2013.
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  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.¬†
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Tylosis with esophageal cancer. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Howel-Evans syndrome
  • Keratosis palmaris et plantaris with esophageal cancer
  • Keratosis palmoplantaris with esophageal cancer
  • TOC
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.