Palmoplantar keratoderma-esophageal carcinoma syndrome
Palmoplantar keratoderma-esophageal carcinoma syndrome
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.
Also known as Bennion-Patterson syndrome, Howell-Evans syndrome, keratosis palmoplantaris-esophageal carcinoma syndrome, palmoplantar hyperkeratosis-esophageal carcinoma syndrome, palmoplantar keratoderma-esophageal carcinoma syndrome, tylosis-oesophageal carcinoma syndrome — per MONDO