Tylosis with esophageal cancer

Title

Other Names:

TOC; Keratosis palmoplantaris with esophageal cancer; 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 See More

Categories:

Congenital and Genetic Diseases; Digestive Diseases; Rare Cancers; Congenital and Genetic Diseases; Digestive Diseases; Rare Cancers; Skin Diseases See More

This disease is grouped under:

Palmoplantar keratoderma

Summary Summary

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

Symptoms Symptoms

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

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormal large intestine morphology	Abnormality of the large intestine	0002250
Esophageal neoplasm	Esophageal tumor	0100751
Gastrointestinal hemorrhage	Gastrointestinal bleeding	0002239
Nausea and vomiting		0002017
Palmoplantar keratoderma		0000982
30%-79% of people have these symptoms
Abnormality of the mediastinum		0045026
Ascites	Accumulation of fluid in the abdomen	0001541
Dysphagia	Poor swallowing Swallowing difficulties Swallowing difficulty [ more ]	0002015
Gastroesophageal reflux	Acid reflux Acid reflux disease Heartburn [ more ]	0002020
Hepatomegaly	Enlarged liver	0002240
Poor appetite	Decreased appetite	0004396
Poor suck	Poor sucking	0002033
Weight loss		0001824
5%-29% of people have these symptoms
Clubbing of toes	Clubbing of feet	0100760
Percent of people who have these symptoms is not available through HPO
Abnormality of the mouth	Abnormal mouth	0000153
Autosomal dominant inheritance		0000006
Diffuse palmoplantar hyperkeratosis		0007447
Esophageal carcinoma		0011459
Neoplasm		0002664
Parakeratosis		0001036

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 10/1/2018

Do you have updated information on this disease? We want to hear from you.

Cause Cause

Mutations in the RHBDF2 gene have been shown to cause the development of this condition. ^[5]^[2]^[3]

Last updated: 1/18/2013

Inheritance Inheritance

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

Treatment Treatment

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

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
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.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
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.

News & Events News & Events

News

NCATS Rare Diseases Are Not Rare! Challenge
October 9, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new 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? See answer

Have a question? Contact a GARD Information Specialist.

References References

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; http://www.ncbi.nlm.nih.gov/pubmed/22638770. 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; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3276661/. Accessed 1/18/2013.
Sybert VP. Genetic Skin Disorders. New York: Oxford University Press; 1997;
Tylosis with esophageal cancer. OMIM Database. July 10, 2009; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148500. Accessed 4/6/2010.