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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: -
- OMIM: 148500
- UMLS: C1835664
- MeSH: -
- GARD: 3102
- MedDRA: -
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