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Disease Profile
Tylosis with esophageal cancer
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
Adolescent
ICD-10
-
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
TOC; Keratosis palmoplantaris with esophageal cancer; Howel-Evans syndrome;
Categories
Congenital and Genetic Diseases; Digestive Diseases; Rare Cancers;
Summary
Tylosis with esophageal
Symptoms
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]
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.
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 |
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 |
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 |
0000006 | ||
Diffuse palmoplantar hyperkeratosis | 0007447 | |
Esophageal carcinoma | 0011459 | |
Neoplasm | 0002664 | |
Parakeratosis | 0001036 |
Diagnosis
Treatment
Specialists involved in the care of someone with tylosis with esophageal cancer may include:
Dermatologist Gastroenterologist Oncologist
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.
References
- 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/.
- 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/.
- 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/.
- 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/.
- 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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