Enchondromas are benign cartilaginous growth in the intramedullary region of the bones, predominantly affecting the metaphyses of long bones (Silve and Jüppner 2006). When two or more bones are affected with enchondromas, the condition is called multiple enchondromatosis. Maffucci first described the syndrome of multiple enchondromas and subcutaneous hemangiomas in 1881, 18 years before Ollier described multiple enchondromatosis.
Synonyms and Related Disorders
Maffucci syndrome; Ollier syndrome
Genetics/Basic Defects
- 1.
Inheritance
- a.
Maffucci syndrome
- i.
Not hereditary
- ii.
A congenital disorder
- i.
- b.
Ollier syndrome
- i.
Not hereditary
- ii.
A congenital disorder
- i.
- c.
Obvious inheritance of enchondromatosis: unusual
- d.
No candidate loci identified
- e.
Ollier syndrome and Maffucci syndrome: possibly a spectrum of the same disease process (Mellon et al. 1988). The latter condition is complicated by vascular anomalies and hemangiomas.
- a.
- 2.
Basic Defect and Pathogenesis
- a....
References
Abdelmalek, M., & Stanko, C. (2008). Recurrent chondrosarcoma of the right skull base in a patient with Maffucci syndrome. American Journal of Clinical Dermatology, 9, 61–65.
Albregts, A. E., & Rapini, R. P. (1995). Malignancy in Maffucci’s syndrome. Dermatologic Clinics, 13, 73–78.
Allen, B. (1978). Maffucci’s syndrome. British Journal of Dermatology, 98(suppl 16), 31–33.
Anderson, I. F. (1965). Maffucci’s syndrome: Report of a case with a review of the literature. South African Medical Journal, 39, 1066–1070.
Ben-Itzhak, I., Deolf, F. A., Versfeld, G.A., et al. (1988). The 494 Maffucci syndrome. Journal of Pediatric Orthopaedics 8, 495 345–348.
Bovée, J. V. M. G. (2008). Multiple osteochondromas. Review. Orphanet Journal of Rare Diseases, 3, 3–9.
Bovee, J. V., van Roggen, J. F., Cleton-Jansen, A. M., et al. (2000). Malignant progression in multiple enchondromatosis (Ollier’s disease): An autopsy-based molecular genetic study. Human Pathology, 31, 1299–1303.
Casanova, D., Boon, L. M., & Vikkula, M. (2006). Venous malformations: Clinical characteristics and differential diagnosis. Annales de Chirurgie Plastique et Esthetique, 51, 373–387.
Chen, V. T., & Harrison, D. (1978). Maffucci’s syndrome. The Hand, 10, 292–298.
Choh, S. A., & Choh, N. A. (2009). Multiple enchondromatosis (Ollier disease). Annals of Saudi Medicine, 29, 65–67.
Couvineau, A., Wouters, V., Bertrand, G., et al. (2008). PTHR1 mutations associated with Ollier disease result in receptor loss of function. Human Molecular Genetics, 17, 2766–2775.
Fang, S., Dimond, D., Amirfeyz, R., et al. (2009). Ollier’s disease and Maffucci syndrome. Orthopaedic Trauma, 23, 278–280.
Fernández-Aguilar, S., Fayt, I., & Noel, J. C. (2004). Spindle cell vulvar hemangiomatosis associated with enchondromatosis: A rare variant of Maffucci’s syndrome. International Journal of Gynecological Pathology, 23, 68–70.
Flach, H. Z., Ginai, A. Z., & Oosterhuis, J. W. (2001). Maffucci syndrome: Radiologic and pathologic findings. RadioGraphics, 21, 1311–1316.
Freisinger, P., Finidori, G., & Maroteaux, P. (1993). Dysspondylenchondromatosis. American Journal of Medical Genetics, 45, 460–464.
Gabos, P. G., & Bowen, J. R. (1998). Epiphyseal-metaphyseal enchondromatosis. A new clinical entity. Journal of Bone & Joint Surgery, 80, 782–792.
Goto, T., Motoi, T., Komiya, K., et al. (2003). Chondrosarcoma of the hand secondary to multiple enchondromatosis: Report of two cases. Archives of Orthopaedic and Traumatic Surgery, 123, 42–47.
Gutman, E., McCutcheon, S., & Garber, P. (1978). Enchondromatosis with hemangiomas (Maffucci’s syndrome). Southern Medical Journal, 71, 466–467.
Halal, F., & Azouz, E. M. (1991). Generalized enchondromatosis in a boy with only platyspondyly in the father. American Journal of Medical Genetics, 38, 588–592.
Hopyan, S., Gokgoz, N., Poon, R., et al. (2002). A mutant PTH/PTHrP type I receptor in enchondromatosis. Nature Genetics, 30, 306–310.
Johnson, T. E., Nasr, A. M., Nalbandian, R. M., et al. (1990). Enchondromatosis and hemangioma (Maffucci’s syndrome) with orbital involvement. American Journal of Ophthalmology, 110, 153–159.
Kaibara, N., et al. (1982). Generalized enchondromatosis with unusual complications of soft tissue calcifications and hemangiomas. Follow-up for over a twelve-year period. Skeletal Radiology, 8, 43–46.
Kaplan, R. P., Wang, J. T., Amron, D. M., et al. (1993). Maffucci’s syndrome: Two case reports with a literature review. Journal of the American Academy of Dermatology, 29, 894–899.
Kaufman, H. J. (1973). Enchondromatosis. Semin Roentgenology, 8, 176–177.
Khoo, R. N., Peh, W. C. G., & Guglielmi, G. (2008). Clinics in diagnostic imaging (124). Multiple enchondromatosis in Ollier disease. Singapore Medical Journal, 49, 841–846.
Kozlowski, K., Brostrom, K., Kennedy, J., et al. (1994). Dysspondyloenchondromatosis in the newborn. Pediatric Radiology, 24, 311–315.
Kozlowski, K., & Jarret, J. (1992). Genochondromatosis II. Pediatric Radiology, 22, 593–595.
Kozlowski, K. S., & Masel, J. (2002). Distinctive enchondromatosis with spine abnormality, regressive lesions, short stature, and coxa vara: Importance of long-term follow-up. American Journal of Medical Genetics, 107, 227–232.
Langenskiöld, A. (1967). The stages of development of the cartilaginous foci in dyschondroplasia (Ollier’s disease). Acta Orthopaedica Scandinavica, 38, 174–180.
Le Merrer, M., Fressinger, P., & Maroteaux, P. (1991). Genochondromatosis. Journal of Medical Genetics, 28, 458–489.
Le, A., Ball, D., Pitman, A., et al. (2003). Chondrosarcoma of bone complicating Ollier’s disease: Report of a favourable response to radiotherapy. Australasian Radiology, 47, 322–324.
Lewis, R. J., & Ketcham, A. S. (1973). Maffucci’s syndrome. Case report and review of the literature. Journal of Bone and Joint Surgery, 55-A, 1465–1479.
Liu, J., Hudkins, P. G., Swee, R. G., et al. (1987). Bone sarcomas associated with Ollier’s disease. Cancer, 59, 1376–1385.
Loder, R. T., Sundberg, S., Gabriel, K., et al. (2004). Determination of bone age in children with cartilaginous dysplasia (multiple hereditary osteochondromatosis and Ollier’s enchondromatosis). Journal of Pediatric Orthopaedics, 24, 102–108.
Loewinger, R. J., Lichtenstein, J. R., Dodson, W. E., et al. (1977). Maffucci’s syndrome: A mesenchymal dysplasia and multiple tumour syndrome. British Journal of Dermatology, 96, 317–322.
Lowell, S. H., & Mathog, R. H. (1979). Head and neck manifestations of Maffucci’s syndrome. Archives of Otolaryngology, 105, 427–430.
Luedtke, L. M., Flynn, J. M., Ganley, T. J., et al. (2001). The orthopedists’ perspective. Bone tumors, scoliosis, and trauma. Radiologic Clinics of North America, 39(4), 803-821.
Mahafza, W. S. (2004). Multiple enchondromatosis Ollier’s disease with two primary brain tumors. Saudi Medical Journal, 25, 1261–1263.
Makis, W., Hickeson, M., & Lisbona, R. (2010). Maffucci syndrome with extraosseous chondrosarcoma imaged with F-18 FDG PET-CT. Clinical Nuclear Medicine, 35, 29–31.
Manizer, F., et al. (1971). The variable manifestations of multiple enchondromatosis. Pediatric Radiology, 99, 377–388.
Margolis, J. (1959). Ollier’s disease. Archives of Internal Medicine, 103, 279.
Maroteaux, P. (1971). La metachondromatose. Zeitschrift für Kinderheilkunde, 109, 246–261.
Märtson, A., Haviko, T., & Kirjanen, K. (2005). Extensive limb lengthening in Ollier’s disease: 25-year follow-up. Medicina (Kaunas, Lithuania), 41, 861–866.
Mellon, C. D., Carter, J. E., & Owen, D. B. (1988). Ollier’s disease and Maffucci syndrome distinct entities or a continuum. Case report: Enchondromatosis complicated y an intracranial glioma. Journal of Neurology, 235, 376–378.
Menger, H., Kruse, K., & Spranger, J. (1989). Spondyloenchondrodysplasia. Journal of Medical Genetics, 26, 93–99.
Miller, S. L., & Hoffer, F. A. (2001). Malignant and benign bone tumors. Radiologic Clinics of North America, 39(4), 673–699.
Montagne, A., Jr., & Ubilluz, H. (1983). Maffucci’s syndrome. Southern Medical Journal, 76, 264–266.
Oestreich, A. E., Mitchell, C. S., & Akeson, J. W. (2002). Both Trevor and Ollier disease limited to one upper extremity. Skeletal Radiology, 31, 230–234.
Pannier, S., & Legeai-Mallet, L. (2008). Hereditary multiple exostoses and enchondromatosis. Best Practice & Research. Clinical Rheumatology, 22, 45–54.
Phelan, E. M. D., Carty, H. M. L., & Kalos, S. (1986). Generalized enchondromatosis associated with haemangiomas, soft-tissue calcifications and hymihypertrophy. British Journal of Radioliology, 59, 69–74.
Rozeman, L. B., Hogendoorn, P. C., & Bovee, J. V. (2002). Diagnosis and prognosis of chondrosarcoma of bone. Expert Review of Molecular Diagnostics, 2, 461–472.
Rozeman, L. B., Sangiorgi, L., Briaire-de Bruijn, I. H., et al. (2004). Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C. Human Mutation, 24, 466–473.
Sandberg, A. A. (2004). Genetics of chondrosarcoma and related tumors. Current Opinion in Oncology, 16, 342–354.
Sandberg, A. A., & Bridge, J. A. (2003). Updates on the cytogenetics and molecular genetics of bone and soft tissue tumors: chondrosarcoma and other cartilaginous neoplasms. Cancer Genetics and Cytogenetics, 143, 1–31.
Saul, R. A. (1987) Hereditary enchondromatosis. Proceedings of the Greenwood Genetics Center, South Carolina 6, 48–50
Schaison, F., Anract, P., Coste, F., et al. (1999). Chondrosarcoma secondary to multiple cartilage diseases. Study of 29 clinical cases and review of the literature. Revue de chirurgie orthopedique et reparatrice de l’appareil, 85, 834–845.
Schorr, S., Legum, C., & Ochshorn, M. (1976). Spondyloenchondrodysplasia. Radiology, 118, 133–139.
Schwartz, H. S., Zimmerman, N. B., Simon, M. A., et al. (1987). The malignant potential of enchondromatosis. J Bone Joint Surg, 69-A, 269–274.
Shapiro, F. (1982). Ollier’s disease. An assessment of angular deformity, shortening and pathological fracture in 21 patients. Journal of Bone and Joint Surgery, 64-A, 95–108.
Silve, C., & Jüppner, H. (2006). Ollier’s disease. Orphanet Journal of Rare Diseases, 1, 37–42.
Slagsvald, J. E., Bergsholm, P. E. R., & Larsen, J. L. (1977). Fibromuscular dysplasia of intracranial arteries in a patient with enchondromas (Ollier disease). Neurology, 27, 1168–1171.
Spranger, J., Kemperdieck, H., Bakowski, H., et al. (1978). Two peculiar types of enchondromatosis. Pediatric Radiology, 7, 215–219.
Sun, T. C., Swee, R. G., Shives, T. C., et al. (1985). Chondrosarcoma in Maffucci’s syndrome. Journal of Bone and Joint Surgery, 67, 1214–1219.
Suringa, D. W. R., & Ackerman, A. B. (1970). Cutaneous lymphangiomas with dyschondroplasia (Maffucci’s syndrome). Archives of Dermatology, 101, 472–474.
Tamimi, H. K., & Bolen, J. W. (1984). Enchondromatosis (Ollier’s disease) and ovarian juvenile granulosa cell tumor. Cancer, 53, 1605–1608.
Unger, E. C., Kessler, H. B., Kowalyshyn, M. J., et al. (1988). MR imaging of Maffucci’s syndrome. American Journal of Roentgenology, 150, 351–353.
Vaz, R. M., & Turner, C. (1986). Ollier disease (enchondromatosis) associated with ovarian juvenile granulosa cell tumor and precocious pseudopuberty. Journal of Pediatrics, 108, 945–947.
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(2012). Enchondromatosis. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_80
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