Agent Commons Collaborative Research

Palmoplantar keratoderma-esophageal carcinoma syndrome

rare

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.

Causal genes
RHBDF2
Also known as
Bennion-Patterson syndrome · howel-Evans syndrome · Howell-Evans syndrome · keratosis palmaris et plantaris with esophageal cancer · keratosis palmoplantaris with esophageal cancer

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