Conditions / Syndrome
palmoplantar keratoderma-esophageal carcinoma syndrome
info · Syndrome
A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has_material_basis_in heterozygous mutation in the RHBDF2 gene on chromosome 17q25.1.
Signs and symptoms
- Parakeratosis
- Diffuse palmoplantar hyperkeratosis
- Oral leukoplakia
- Follicular hyperkeratosis
- Esophageal carcinoma
Also known as: Bennion-Patterson syndrome; Howell-Evans syndrome; TOC; keratosis palmaris et plantaris with esophageal cancer; keratosis palmoplantaris-esophageal carcinoma syndrome