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Enchondromatosis

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Atlas of Genetic Diagnosis and Counseling

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Abstract

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. Eighteen years previously, Ollier (1898) described multiple enchondromatosis. The prevalence of enchondromatosis is estimated to be 1 in 100,000 (Silve and Jüppner 2006). Enchondromatosis encompasses several different subtypes of which Ollier disease and Maffucci syndrome are the most common (Superti-Furga et al. 2012; Cerny et al. 2013).

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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.

    Article  PubMed  Google Scholar 

  • Albregts, A. E., & Rapini, R. P. (1995). Malignancy in Maffucci’s syndrome. Dermatologic Clinics, 13, 73–78.

    PubMed  CAS  Google Scholar 

  • Al-Ismail, K., Torreggiani, W. C., & Munk, P. L. (2002). Ollier’s disease in association with adjacent fibromatosis. Skeletal Radiology, 31, 479–483.

    Article  PubMed  Google Scholar 

  • Amary, M. F., Damato, S., Halai, D., et al. (2011). Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. Nature Genetics, 43, 1262–1265.

    Article  PubMed  CAS  Google Scholar 

  • Amyere, M., Dompmartin, A., Wouters, V., et al. (2014). Common somatic alterations identified in Maffucci syndrome by molecular karyotyping. Molecular Syndromology, 5, 259–267.

    PubMed  PubMed Central  Google Scholar 

  • Au, W. Y., Ooi, G. C., Ma, S. K., et al. (2004). Chronic myeloid leukemia in an adolescent with Ollier’s disease after intensive x-ray exposure. Leukemia and Lymphoma, 45, 613–616.

    Article  PubMed  CAS  Google Scholar 

  • Bayar, A., Acun, C., Dursun, A., et al. (2005). Metaphyseal enchondrodysplasia with 2-hydroxyglutaric aciduria: Observation of a third case and further delineation. Clinical Dysmorphology, 14, 7–11.

    Article  PubMed  Google Scholar 

  • Ben-Itzhak, I., Deolf, F. A., Versfeld, G. A., et al. (1988). The 494 Maffucci syndrome. Journal of Pediatric Orthopaedics, 8(495), 345–348.

    Article  PubMed  CAS  Google Scholar 

  • Bovée, J. V. M. G. (2008). Multiple osteochondromas. Review. Orphanet Journal of Rare Diseases, 3, 3–9.

    Article  PubMed  PubMed Central  Google Scholar 

  • Bovée, 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.

    Article  PubMed  Google Scholar 

  • Bowen, M. E., Boyden, E. D., Holm, I. A., et al. (2011). Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. PLoS Genetics, 7, e1002050.

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  • Braddock, G. T., & Hadlow, V. D. (1966). Osteosarcoma in enchondromatosis (Ollier’s disease): Report of a case. Journal of Bone and Joint Surgery British, 48, 145–149.

    CAS  Google Scholar 

  • Briggs, G. D., Gordon, S. L., & Dickson, P. W. (2011). Mutational analysis of catecholamine binding in tyrosine hydroxylase. Biochemistry, 50, 1545–1555.

    Article  PubMed  CAS  Google Scholar 

  • Cerny, M., Rudiger, H. A., Aubry-Rozier, B., et al. (2013). Enchondromatosis (Ollier’s disease. Arthritis and Rheumatism, 5, 2886.

    Article  Google Scholar 

  • Chang, S., & Prados, M. D. (1994). Identical twins with Ollier’s disease and intracranial gliomas: Case report. Neurosurgery, 34, 903–906.

    Article  PubMed  CAS  Google Scholar 

  • Chen, V. T., & Harrison, D. (1978). Maffucci’s syndrome. The Hand, 10, 292–298.

    Article  PubMed  CAS  Google Scholar 

  • Choh, S. A., & Choh, N. A. (2009). Multiple enchondromatosis (Ollier disease). Annals of Saudi Medicine, 29, 65–67.

    PubMed  PubMed Central  Google Scholar 

  • Choo, H. J., Cho, T. J., Song, J., et al. (2012). Metaphyseal chondromatosis combined with D-2-hydroxyglutaric aciduria in four patients. Skeletal Radioliology, 41, 1479–1487.

    Google Scholar 

  • 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.

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  • Fang, S., Dimond, D., Amirfeyz, R., et al. (2009). Ollier’s disease and Maffucci syndrome. Orthopaedic Trauma, 23, 278–280.

    Article  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • Filiz, K. (2006). Ollier disease anaplastic mixed oligoastocytoma: A rare association with brain tumors. Neurosurg Quarterly, 16, 195–197.

    Article  Google Scholar 

  • Fisher, T. J., Williams, N., Morris, L., et al. (2013). Metachondromatosis: More than just multiple osteochondromas. Journal of Child Orthopedics, 7, 455–464.

    Article  Google Scholar 

  • Flach, H. Z., Ginai, A. Z., & Oosterhuis, J. W. (2001). Maffucci syndrome: Radiologic and pathologic findings. RadioGraphics, 21, 1311–1316.

    Article  Google Scholar 

  • Freisinger, P., Finidori, G., & Maroteaux, P. (1993). Dysspondylenchondromatosis. American Journal of Medical Genetics, 45, 460–464.

    Article  PubMed  CAS  Google Scholar 

  • Gabos, P. G., & Bowen, J. R. (1998). Epiphyseal-metaphyseal enchondromatosis. A new clinical entity. Journal of Bone and Joint Surgery, 80, 782–792.

    PubMed  CAS  Google Scholar 

  • Gell, J. S., Stannard, M. W., Ramnani, D. M., et al. (1998). Juvenile granulosa cell tumor in a 13-year-old girl with enchondromatosis (Ollier’s disease): A case report. Journal of Pediatric Adolescent and Gynecology, 11, 147–150.

    Article  CAS  Google Scholar 

  • Ghatan, A., Scharschmidt, T., & Conrad, E. (2010). Extreme enchondromatosis. A report of two cases and review of the literature. Journal of Bone and Joint Surgery American, 92, 2336–2343.

    Article  Google Scholar 

  • Girschick, H., Wolf, C., Morbach, H., et al. (2015). Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novelmutations in th eACP5 gene. Pediatric Rheumatology, 13, 37.

    Google Scholar 

  • 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.

    Google Scholar 

  • Gutman, E., McCutcheon, S., & Garber, P. (1978). Enchondromatosis with hemangiomas (Maffucci’s syndrome). Southern Medical Journal, 71, 466–467.

    Article  PubMed  CAS  Google Scholar 

  • 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.

    Article  PubMed  CAS  Google Scholar 

  • Herget, G. W., Strohm, P., Rottenburger, C., et al. (2014). Insights into enchondroma, enchondromatosis and the risk of secondary chondrosarcoma. Review of the literature with an emphasis on the clinical behaviour, radiology, malignant transformation and the follow up. Neoplasma, 61(4), 365–378.

    Article  PubMed  CAS  Google Scholar 

  • Hogendoorn, P. C., ESMO/Eurobonet Working Group, Athanasou, N., Bielack, S., et al. (2010). Bone sarcomas: ESMO clinical practice guideline for diagnosis, treatment and follow-up. Annual of Oncology, 21(Suppl 5), 204–213.

    Article  Google Scholar 

  • Honey, E. M., van Rensburg, M., Knoll, P., et al. (2003). Spondyloenchondromatosis with D-2-hydroxyglutaric aciduria: A report of a second patient with this unusual combination. Clinical Dysmorphology, 12, 95–99.

    Article  PubMed  CAS  Google Scholar 

  • Hopyan, S., Gokgoz, N., Poon, R., et al. (2002). A mutant PTH/PTHrP type I receptor in enchondromatosis. Nature Genetics, 30, 306–310.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  CAS  Google Scholar 

  • 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.

    Article  PubMed  CAS  Google Scholar 

  • Kaufman, H. J. (1973). Enchondromatosis. Semin Roentgenology, 8, 176–177.

    Article  Google Scholar 

  • 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.

    PubMed  CAS  Google Scholar 

  • Kozlowski, K., & Jarret, J. (1992). Genochondromatosis II. Pediatric Radiology, 22, 593–595.

    Article  PubMed  CAS  Google Scholar 

  • 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.

    Article  PubMed  CAS  Google Scholar 

  • Kozlowski, K., Brostrom, K., Kennedy, J., et al. (1994). Dysspondyloenchondromatosis in the newborn. Pediatric Radiology, 24, 311–315.

    Article  PubMed  CAS  Google Scholar 

  • Kumar, A., Jain, V. K., Bharadwaj, M., et al. (2015). Ollier disease: Pathogenesis, diagnosis, and management. Orthopedics, 38, e497–e506.

    Article  PubMed  Google Scholar 

  • Lausch, E., Janecke, A., Bros, M., et al. Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Nature Genetics, 43, 132–137.

    Google Scholar 

  • Le Merrer, M., Fressinger, P., & Maroteaux, P. (1991). Genochondromatosis. Journal of Medical Genetics, 28, 458–489.

    Article  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Google Scholar 

  • Leyva-Carmona, M., Vazquez-Lopez, M. A., & Lendinez-Molinos, F. (2009). Ovarian juvenile granulosa cell tumors in infants. Journal of Pediatric Hematology Oncology, 31, 304–306.

    Article  Google Scholar 

  • Liu, J., Hudkins, P. G., Swee, R. G., et al. (1987). Bone sarcomas associated with Ollier’s disease. Cancer, 59, 1376–1385.

    Article  PubMed  CAS  Google Scholar 

  • 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.

    Article  PubMed  CAS  Google Scholar 

  • Lowell, S. H., & Mathog, R. H. (1979). Head and neck manifestations of Maffucci’s syndrome. Archives of Otolaryngology, 105, 427–430.

    Article  PubMed  CAS  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • Märtson, A., Haviko, T., & Kirjanen, K. (2005). Extensive limb lengthening in Ollier’s disease: 25-year follow-up. Medicina (Kaunas, Lithuania), 41, 861–866.

    Google Scholar 

  • Menger, H., Kruse, K., & Spranger, J. (1989). Spondyloenchondrodysplasia. Journal of Medical Genetics, 26, 93–99.

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  • Nakane, T., Tando, T., Aoyagi, K., et al. (2011). Dysspondyloenchondromatosis: Another COL2A1-related skeletal dysplasia. Molecular Syndromology, 2, 21–26.

    PubMed  CAS  PubMed Central  Google Scholar 

  • 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.

    Article  PubMed  CAS  Google Scholar 

  • Ollier, L. (1898). Exostoses ost’eogeniques multiples. Lyon Médical, 88, 484–486.

    Google Scholar 

  • Pannier, S., & Legeai-Mallet, L. (2008). Hereditary multiple exostoses and enchondromatosis. Clinical Rheumatology, 22, 45–54.

    PubMed  CAS  Google Scholar 

  • Pansuriya, T. C., Kroon, H. M., & Bovée, J. V. M. G. (2010). Enchondromatosis: Insights on the different subtypes. International Journal of Clinical Experimental Pathology, 3, 557–569.

    PubMed  PubMed Central  Google Scholar 

  • Pansuriya, T. C., van Eijk, R., d’Adamo, P., et al. (2011). Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. Nature Genetics, 43, 1256–1261.

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  • Ranger, A., & Szymczak, A. (2009). The association between intracranial tumours and multiple dyschondroplasia (Ollier’s disease/Maffucci’s syndrome): Do children and adults differ? Journal of Neurooncology, 95, 165–173.

    Article  Google Scholar 

  • Rawlings, C. E., Bullard, D. E., Burger, P. C., et al. (1987). A case of Ollier’s disease associated with two intracranial gliomas. Neurosurgery, 21, 400–403.

    Article  PubMed  Google Scholar 

  • Rietveld, L., Nieboer, T. E., Kluivers, K. B., et al. (2009). First case of juvenile granulosa cell tumor in an adult with Ollier disease. International Journal of Gynecological Pathology, 28, 464–467.

    Article  PubMed  Google Scholar 

  • Rozeman, L. B., Szuhai, K., Schrage, Y. M., et al. (2006). Array-comparative genomic hybridization of central chondrosarcoma: Identification of ribosomal protein S6 and cyclin-dependent kinase 4 as candidate target genes for genomic aberrations. Cancer, 107, 380–388.

    Article  PubMed  CAS  Google Scholar 

  • Schorr, S., Legum, C., & Ochshorn, M. (1976). Spondyloenchondrodysplasia. Radiology, 118, 133–139.

    Article  PubMed  CAS  Google Scholar 

  • Schwartz, H. S., Zimmerman, N. B., Simon, M. A., et al. (1987). The malignant potential of enchondromatosis. Journal of Bone and Joint Surgery, 69-A, 269–274.

    Google Scholar 

  • Sendur, O. F., Turan, Y., Odabasi, B. B., et al. (2010). A case of Ollier disease with non-small cell lung cancer and review of the literature. Rheumatology International, 30, 699–703.

    Article  PubMed  Google Scholar 

  • 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.

    Google Scholar 

  • Silve, C., & Jüppner, H. (2006). Ollier’s disease. Orphanet Journal of Rare Diseases, 1, 37–42.

    Article  PubMed  PubMed Central  Google Scholar 

  • Sobreira, N. L., Cirulli, E. T., Avramopoulos, D., et al. (2010). Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene. PLoS Genetics, 6, e1000991.

    Article  PubMed  PubMed Central  Google Scholar 

  • Spranger, J., Kemperdiec, H., Bakowsk, H., et al. (1978). Two peculiar types of enchondromatosis. Pediatric Radiology, 7, 215–219.

    Article  PubMed  CAS  Google Scholar 

  • 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.

    PubMed  CAS  Google Scholar 

  • Superti-Furga, A., Spranger, J., Nishimura, G., et al. (2012). Enchondromatosis revisited: New classification with molecular basis. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 160C, 154–164.

    Article  Google Scholar 

  • Suringa, D. W. R., & Ackerman, A. B. (1970). Cutaneous lymphangiomas with dyschondroplasia (Maffucci’s syndrome). Archives of Dermatology, 101, 472–474.

    Article  PubMed  CAS  Google Scholar 

  • Talkhani, I. S., Saklatvala, J., & Dwyer, J. (2000). D-2-hydroxyglutaric aciduria in association with spondyloenchondromatosis. Skeletal Radiology, 29, 289–292.

    Article  PubMed  CAS  Google Scholar 

  • Tamimi, H. K., & Bolen, J. W. (1984). Enchondromatosis (Ollier’s disease) and ovarian juvenile granulosa cell tumor. Cancer, 53, 1605–1608.

    Article  PubMed  CAS  Google Scholar 

  • Tran Mau-Them, F., Boualam, A., Barat, M., et al. (2014). Dysspondyloenchondromatosis without COL2A1 mutation: Possible genetic heterogeneity. American Journal of Medical Genetics Part A, 164A, 769–773.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  CAS  Google Scholar 

  • 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.

    Article  PubMed  CAS  Google Scholar 

  • Vissers, L. E. L. M., Fano, V., Martinelli, D., et al. (2011). Whole exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA). American Journal of Medical Genetics Part A, 155A, 2609–2616.

    Article  PubMed  Google Scholar 

  • Weyl-Ben Arush, M., & Oslander, L. (1991). Ollier’s disease associated with ovarian Sertoli-Leydig cell tumor and breast adenoma. American Journal of Pediatric Hematology/Oncology, 13, 49–51.

    Article  PubMed  CAS  Google Scholar 

  • White, M. S., Martin, P. L., & McLean, T. W. (2008). Acute myelogenous leukemia associated with Ollier disease. Pediatric Blood & Cancer, 50, 45–646.

    Article  Google Scholar 

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  1. Medical Genetics, Shriners Hospitals for Children, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

  2. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

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Chen, H. (2015). Enchondromatosis. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_80-2

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