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Palmoplantar keratoderma-esophageal carcinoma syndrome
Disease definition
A rare genetic disease characterized by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and esophageal leukokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the esophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection.
ORPHA:2198
Classification level: Disorder- Synonym(s):
- Bennion-Patterson syndrome
- Howell-Evans syndrome
- Keratosis palmoplantaris-esophageal carcinoma syndrome
- Palmoplantar hyperkeratosis-esophageal carcinoma syndrome
- Tylosis-oesophageal carcinoma syndrome
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal dominant
- Age of onset: Adolescent, Adult
- ICD-10: Q82.8
- ICD-11: EC20.31
- OMIM: 148500
- UMLS: C1835664
- MeSH: C536164
- GARD: 3102
- MedDRA: -
A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020)
Detailed information
Disease review articles
- Review article
- English (2015) - Orphanet J Rare Dis
produced/endorsed by ERN(s) 
produced/endorsed by FSMR(s)Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
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