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  3. Tylosis with esophageal cancer
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Tylosis with esophageal cancer


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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


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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.[1][2][3][4]
Last updated: 10/28/2020

Symptoms Symptoms


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The following list includes the most common signs and symptoms in people with tylosis with esophageal cancer. These features may be different from person to person. Some people may have more symptoms than others and the age at which symptoms occur may vary. This list does not include every symptom that has been described in the condition.

Symptoms of tylosis with esophageal cancer may include:[1][3] 
  • 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.[2]
Last updated: 10/29/2020

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.

Showing of 20 |
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
Thickening of palms and soles
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 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
Showing of 20 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021

Cause Cause


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Tylosis with esophageal cancer occurs when the RHBDF2 gene is not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.[1]
Last updated: 10/29/2020

Inheritance Inheritance


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Tylosis with esophageal cancer is inherited in an autosomal dominant pattern.[2] All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Dominant means that only one altered copy of a gene is necessary to have the condition. The variant can be inherited from either parent. Sometimes an autosomal dominant condition occurs because of a new genetic variant (de novo) and there is no history of this condition in the family.
  
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.

Last updated: 10/29/2020

Diagnosis Diagnosis


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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.[2][4]
Last updated: 10/29/2020

Treatment Treatment


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Treatment of tylosis with esophageal cancer is focused on early detection of esophageal cancer, as well as diet and lifestyle modifications. These modifications include quitting smoking and restricting alcohol use. The skin findings are treated with lotions and medications as necessary.[2][4]

Specialists involved in the care of someone with tylosis with esophageal cancer may include:
  • Dermatologist
  • Gastroenterologist
  • Oncologist
Last updated: 10/29/2020

Statistics Statistics


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Tylosis with esophageal cancer has only been reported in a few families worldwide. The exact number of people with this condition is unknown.[2][5]
Last updated: 10/29/2020
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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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 MedlinePlus Genetics.

Learn More Learn More


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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


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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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.

Have a question? Contact a GARD Information Specialist.

References References


  1. Blaydon DC, Etheridge SL, Risk JM, Hennies HC, Gay LJ, et al. RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome. Am J Hum Genet. Feb 10, 2012; 90(2):340-6. https://pubmed.ncbi.nlm.nih.gov/22265016/.
  2. Ellis A, Risk JM, Maruthappu T, Kelsell DP. Tylosis with oesophageal cancer: Diagnosis, management and molecular mechanisms. Orphanet J Rare Dis. Sep 29, 2015; 10:126. https://pubmed.ncbi.nlm.nih.gov/26419362/.
  3. Jenkins LE, Abner S, Schadt C. A survey study with assessment of esophageal screening and genetic counseling in patients with Howel-Evans syndrome. Dermatol Online J. Jun 15, 2018; 24(6):13030/qt1c03j65k. https://pubmed.ncbi.nlm.nih.gov/30142717/.
  4. Ramai D, Lai JK, Ofori E, Linn S, Reddy M. Evaluation and Management of Premalignant Conditions of the Esophagus: A Systematic Survey of International Guidelines. J Clin Gastroenterol. Oct 2019; 53(9):627-634. https://pubmed.ncbi.nlm.nih.gov/31403982/.
  5. Qu L, Sha S, Zou QL, Gao XH, Xiao T, Chen HD, He CC. Whole Exome Sequencing Identified a Novel Mutation of the RHBDF2 Gene in a Chinese Family of Tylosis with Esophageal Cancer. Acta Derm Venereol. Jun 1, 2019; 99(7):699-700. https://pubmed.ncbi.nlm.nih.gov/30938830/.
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