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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.
Features include: Parakeratosis, Diffuse palmoplantar hyperkeratosis, Oral leukoplakia, and Follicular hyperkeratosis and 1 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Skin | 2 | Diffuse palmoplantar hyperkeratosis, Follicular hyperkeratosis |
Blood and immune system | 1 | Oral leukoplakia |
Digestive system | 1 | Esophageal carcinoma |
Age of onset: adulthood, adolescence.
RHBDF2 function has not been fully characterized.
Palmoplantar keratoderma-esophageal carcinoma syndrome is caused by mutations in the RHBDF2 gene on chromosome 17.
Genetic testing for RHBDF2 is available. Testing is considered confirmatory for diagnosis.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for palmoplantar keratoderma-esophageal carcinoma syndrome.
1 publication has been identified in PubMed for palmoplantar keratoderma-esophageal carcinoma syndrome. Research spans Epidemiology / Natural History (100%).
Mengistu ST (2024). [PMID: 38962101](https://pubmed.ncbi.nlm.nih.gov/38962101/). *Journal of cancer epidemiology*. [Epidemiology / Natural History]
Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 5:33 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center