Enchondromatosis and hemangioma (Maffucci's syndrome) with orbital involvement

• Published in: American journal of ophthalmology Vol. 110; no. 2; p. 153
• Main Authors: Johnson, T E, Nasr, A M, Nalbandian, R M, Cappelen-Smith, J
• Format: Journal Article
• Language: English
• Published: United States 15-08-1990
• Subjects: Adult; Blepharoptosis - diagnosis; Blepharoptosis - etiology; Enchondromatosis - complications; Enchondromatosis - diagnosis; Enchondromatosis - diagnostic imaging; Hand - diagnostic imaging; Hemangioma, Cavernous - complications; Hemangioma, Cavernous - diagnosis; Hemangioma, Cavernous - diagnostic imaging; Humans; Male; Orbital Neoplasms - complications; Orbital Neoplasms - diagnosis; Orbital Neoplasms - diagnostic imaging; Osteochondrodysplasias - complications; Skull - diagnostic imaging; Syndrome; Tomography, X-Ray Computed; Ultrasonography; Visual Acuity
• ISSN: 0002-9394
• DOI: 10.1016/S0002-9394(14)76984-3

Maffucci's syndrome is a rare, congenital disease of unknown cause characterized by the development of multiple enchondromas and soft-tissue hemangiomas. We treated a 34-year-old man with Maffucci's syndrome, bilateral proptosis secondary to multiple intraorbital hemangiomas, corneal exposure secondary to a left facial nerve palsy, and multiple intra-abdominal tumors. The skeletal manifestations were not clinically apparent and were only discovered after a careful radiologic survey. Simultaneous bilateral orbital cavernous hemangiomas should alert the physician to the possibility of Maffucci's syndrome.