Orphanet: Palmoplantar keratoderma esophageal carcinoma syndrome
x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

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: -

Detailed information

Professionals

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.