- extremely rare
- autosomal dominant disorder
- RHBDF2 mutation
- Clinical features
- Focal hyperkeratosis of the palms and soles, with thickening and fissuring of the skin.
- Oral precursor lesions, such as leukoplakia
- High risk of developing esophageal cancer
- In one study, 95% of patients had esophageal cancer by 65 years of age.
- Require OGD surveillance from an early age
