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Mafucci's syndrome Also known as: Kasts disease Kasts syndrome Maffucci-Kast syndrome Synonyms: Achondromatosis with haemangiomata, chondrodysplasia angiomatosis syndrome, chondrodystrophy-haemangiomas syndrome; chondrodystrophy and vascular hamartoma syndrome, chondrodystrophy with angiomatosis, chondrodystrophy with vascular hamartoma, cutaneous dyschondroplasia-dyschromia syndrome, dyschondroplasia-angiomatosis syndrome, dyschondroplasia with haemangioma, dyschondrodysplasia-haemangiomas syndrome; multiple enchondromatosis syndrome; vascular hamartoma-dyschondroplasia syndrome. Associated persons: Alfred Kast Angelo Maffucci Description: Syndrome of enchondromas (benign tumours of cartilage), associated with multiple cavernous haemangiomas. Sometimes the patients show pigmentation. Normal at birth; bone and cartilage deformities appear during childhood in the years before puberty and the deformities increase during the period of growth. Complications are pathological fractures and other disorders of nonossified cartilage in the metaphyses and diaphyses of the long bones, chondrosarcoma and angiosarcoma. The skin and bony elsions are asymmetrical and do not coincide anatomically. Usually, no history of pain; orthostatic hypotension in sitting or standing position. Normal intelligence. Males are more frequently affected. Both sexes affected. Most cases are sporadic, but some instances of familial occurrence have been reported. | |
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