/palmoplantar keratoderma-esophageal carcinoma syndrome

palmoplantar keratoderma-esophageal carcinoma syndrome

Rare Disease

MONDO:0007856

Also Known As

Bennion-Patterson syndromeHowell-Evans syndromekeratosis palmoplantaris-esophageal carcinoma syndromepalmoplantar hyperkeratosis-esophageal carcinoma syndromepalmoplantar keratoderma-esophageal carcinoma syndrometylosis-oesophageal carcinoma syndromeTochowel-Evans syndromekeratosis palmaris Et plantaris with esophageal cancerkeratosis palmaris et plantaris with esophageal cancerkeratosis palmoplantaris with esophageal cancerpalmoplantar keratoderma with esophageal cancertylosis - oesophageal carcinomatylosis with esophageal cancer

Definition

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.