Maffucci syndrome (multiple enchondromatosis; progressive dyschondroplasia and multiple hemangiomas; kast syndrome; osteochondromatosis)

General: Rare; etiology unknown; no hereditary factor; manifest in ages I to 5 years; characterized by numerous cartilage tumors involving mainly small bones of hands and feet; malignant transformation common; no simple mendelian inheritance.

Ocular: Hemangiomas of lid and retina.

Clinical: Multiple enchondromas with secondary bony deformities (dyschondroplasia of Ollier); chondrosarcomas; multiple hemangiomas and phlebolithiasis; orthostatic hypotension (depending on extent and size of hemangiomas); frequent fractures following minimal trauma; precocious pseudopuberty.

Elmore SM, Cantrell WC. Maffucci's syndrome. J Bone Joint Surg 1966; 48:1607-l613.

Geeraets WJ. Ocular Syndromes, 3rd ed. Philadelphia: Lea & Febiger, 1976.

Maffucci A. Di un Caso di Encondroma ad Angioma Multiple. Movimento Medchir

Vaz RM, Turner C. Ollier disease associated with ovarian juvenile granuloma cell tumor and precocious pseudopuberty. J Pediatr 1986; 108:945-947.