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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.


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: -

Detailed information

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.