Palmoplantar keratoderma-esophageal carcinoma syndrome

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Synonyms: Bennion-Patterson syndrome | Howell-Evans syndrome | Keratosis palmoplantaris-esophageal carcinoma syndrome | Palmoplantar hyperkeratosis-esophageal carcinoma syndrome | Tylosis-oesophageal carcinoma syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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Clinical Trials

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