Palmoplantar keratoderma-esophageal carcinoma syndrome

Orpha code: 2198OMIM code: 148500

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.

Disease data
Classification

Disease

Synonyms
Bennion-Patterson syndrome
Hiperkeratoza dłoni i stóp - rak przełyku
Keratosis palmoplantaris-esophageal carcinoma syndrome
Zespół Benniona i Pattersona
Zespół hiperkeratozy dłoni i stóp oraz nowotworu przełyku
Zespół Howella i Evansa
Howell-Evans syndrome
Keratosis palmoplantaris-esophageal carcinoma syndrome
Palmoplantar hyperkeratosis-esophageal carcinoma syndrome
Tylosis-oesophageal carcinoma syndrome
ORPHA code
2198
OMIM code
148500
ICD10 code
Q82.8
ICD11 code
EC20.31

No additional description.

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