Enchondroma and Enchondromatosis Last Updated: June 10, 2005 Author: Felix S Chew, MD, EdM, MBA, Professor, Department of Radiology, Vice Chairman for Radiology Informatics, Section Head of Musculoskeletal Radiology, University of Washington Coauthor(s): Catherine Maldjian, MD, Associate Professor, Director, Radiology Research Center, Department of Radiology, Westchester Medical Center Background: Enchondromas are benign cartilaginous neoplasms in bone. The primary significance of enchondroma is related to its complications, most notably pathologic fracture, and a small incidence of malignant transformation, which may be associated with pathologic fracture. Enchondromas are usually solitary benign lesions in intramedullary bone. When multiple enchondromas coexist, the diagnosis of enchondromatosis should be considered. Multiple enchondromas may occur in 3 distinct disorders: Ollier disease is a nonhereditary disorder characterized by multiple enchondromas with a predilection for unilateral distribution. The enchondromas can grow large and be disfiguring. Maffucci syndrome is nonhereditary, is less common than Ollier disease. This syndrome results in multiple hemangiomas in addition to enchondromas. Metachondromatosis consists of multiple enchondromas and osteochondromas, and it is the only 1 of the 3 disorders that is hereditary. Metachondromatosis is inherited by autosomal dominant transmission.

"Benign growths of cartilage in the metaphyses of several bones." Enchondromatosis aka/or Maffucci syndrome aka/or Multiple enchondrosis aka/or Ollier's disease may cause or feature - Miscellaneous syndromes Bone lysis Symptoms and Signs Disproportionate short stature Exostoses Hemangioma Subcutaneous nodules X-ray abnormalities Exostoses may be a risk factor for Chondrosarcoma may be associated with Spindle cell hemangioendothelioma

Enchondroma with multiple angiomas (Maffucci syndrome) was first reported by Maffucci in 1881 after a 40-year-old woman died from complications following amputation of an arm. The patient had frequent and severe hemorrhage from a vascular tumor for which she was admitted to the hospital. In view of the profuse bleeding, an amputation was performed and the patient died from infection. Maffucci reported a thorough autopsy that described all the main points of the syndrome named after him. In 1941, Carleton et al proposed the eponym Maffucci syndrome. Maffucci syndrome is a rare genetic disorder that affects both males and females. It is characterized by benign enlargements of cartilage (enchondromas); bone deformities; and dark, irregularly shaped hemangiomas. No racial or sexual predilection is apparent. No familial pattern of inheritance has been shown, but the disease manifests early in life, usually around the age of 4 or 5 years, with 25% of cases being congenital. The disease appears to develop from mesodermal dysplasia early in life. Patients apparently are of average intelligence, and no associated mental or psychiatric abnormalities seem to be present. About 160 cases have been published in the English literature.

Maffucci's syndrome is defined as multiple enchondromatosis with soft tissue and visceral hemangiomas. Patients with Maffucci's syndrome are believed to be at far greater risk for malignant transformation than those with Ollier's disease. Diagnostic Radiology/Musculoskeletal Imaging/Tumors Basic/Maffucci syndrome From Wikibooks, the open-content textbooks collection

ENCHONDROMATOSIS, MULTIPLE Alternative titles; symbols OSTEOCHONDROMATOSIS DYSCHONDROPLASIA MAFFUCCI SYNDROME, INCLUDED OLLIER DISEASE, INCLUDED enchondromatosis was found by Hopyan et al. (2002) to be caused by mutation in the PTH/PTHRP type I receptor (PTHR1; 168468.0007). However, Rozeman et al. (2004), in an extensive study of enchondromas and chondrosarcomas from 31 enchondromatosis patients from 3 different European countries, found no abnormality of expression of PTHR1 protein by immunochemistry, found no instance of the arg150-to-cys mutation, and found no other causative mutation in the PTHR1 gene. CLINICAL FEATURES Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis (Ollier and Maffucci diseases). Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma (Schwartz et al., 1987). Spondyloenchondromatosis, also known as spondyloenchondrodysplasia (271550), appears to be a distinct entity, inherited as an autosomal recessive. The combination of enchondromatosis and multiple exostoses characterizes metchondromatosis (156250).

Multiple Enchodromatosis (Ollier's Disease) Discussion: - originally was described by Ollier in late 1800's; - characterized by multiple enchondroma lesions primarily located w/ in the metaphyseal regions of tubular bones; - usually diagnosed in childhood; - pts w/ Ollier's dz have increased risk of a secondary chondrosarcoma developing later in life; - risk is about 25% by age 40 yrs

Section of Orthopedics Hyperguide

Ollier's Disease is a rare condition in which benign tumors form in developing bones and prevent proper bone growth. It is also known as Multiple Enchondromatosis. The condition was first described by French surgeon Louis Ollier (1830-1899). In individuals with Ollier's disease, benign tumors called enchondromas form in the cartilage cells of the long bones, usually o­n o­ne side of the body, preventing cartilage production, calcification and growth. As a result, bones o­n o­ne side of the body are shorter than o­n the other. The difference in length continues to increase until bone growth is completed, typically at adolescence. Other bones can be affected including, but not limited to pelvic, rib and skull. The bones are also more prone to fractures. These tumors can become malignant (cancerous)in the form of chondrosarcoma. Therefore, periodic bone scans are recommended to detect possible malignancies early, and so limit the extent of the damage. Although the exact cause of Ollier's Disease is not known, it is believed to be a random spontaneous mutation. Diagnostic Radiology/Musculoskeletal Imaging/Tumors Basic/Ollier disease From Wikibooks, the open-content textbooks collection

Radiology teaching, the hand in Mafucci syndrome, a single radiology case example

Mafucci syndrome

Ollier disease