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Синдром долонно-підошовної кератодермії-стравохідної карциноми

ORPHA:2198· ICD-10 Q82.8· Palmoplantar keratoderma-esophageal carcinoma syndrome

Визначення(English summary)

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.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal dominant
Вік початку
Adolescent, Adult