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