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ISSN 2992-8036 (Electronic)
ISSN 2306-4102 (Print)
Órgano Oficial del Colegio Mexicano de Ortopedia y Traumatología

2009, Number 6

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Acta Ortop Mex 2009; 23 (6)

Differential diagnosis of multiple hereditary exostosis: presentation of a clinical case with secondary chondrosarcoma and literature review

Sansón-RíoFrío JA, Navarro SS, Bahena RI, Villavicencio VV, Martínez-Said H, Padilla RA, Cuellar HM

Language: Spanish
References: 35
Page: 376-382
PDF size: 232.71 Kb.


ABSTRACT

Enchondromatoses include a heterogeneous group of congenital syndromes characterized by the presence of multiple enchondromas associated with musculo-skeletal malformations secondary to limb shortening, scoliosis, pathological fractures and pseudoarthrosis. The main complication of enchondromas is their malignant transformation to secondary chondrosarcomas, which may occur in up to 25% of cases. The multiple enchondromatosis syndromes have many clinical similarities and the differential diagnosis is therefore difficult to make. We present the clinical case of a 38-year-old patient with a diagnosis of multiple familial enchondromatosis who developed a pelvic chondrosarcoma that was treated with external hemipelvectomy. We reviewed the literature concerning the specific aspects of Mafucci, Ollier and multiple familial enchondromatosis syndromes.


REFERENCES

  1. Rozeman LB, Sangiorgi L, Briare-de-Brujin IH, Mainil-Varlet P, Bertoni F, Cleton-Jansen AM, Hogendoorn PC, Boveé JV: Enchondromatosis (Ollier Disease, Maffucci Syndrome) is not caused by the PTHR1 mutation p.R150C. Hum Mutat 2004; 24(6): 466-73.

  2. Ahmed SK, Lee WC, Irving RM, Walsh AR: Is Ollier’s disease an understaging of Maffucci’s syndrome? J Laryngol Otol 1999; 113(9): 861-4.

  3. Ramirez J, Padilla A, Romero A, Lavín A, Medina J, Dubón E, Turcios E: Síndrome de Maffucci: Informe de dos pacientes y revisión de la literatura. Cir Ciruj 2005; 73: 217-21.

  4. Desai S, Kubeyinje EP, Belagavi CS, Desai S: Maffucci’s syndrome. Ann Saudi Med 1997; 17(4): 451-3.

  5. Camarda R, Wilcox III RB, Ghazinouri R, Wilmarth MA: Acute physical therapy management for a patient with Maffucci’s syndrome following modified internal hemipelvectomy and reconstruction with Saddle prosthesis: A case report. Rehab Oncol 2008; 26(1): 8-17.6. Gabos PG, Bowen JR: Epiphyseal-metaphyseal enchondromatosis. A new clinical entity. J Bone Joint Surg Am 1998; 80(6): 782-92.

  6. Pacheco RC, Torres B, Ugalde A, del Vecchyo C, Sastré N: Enfermedad de Ollier de presentación bilateral. Reporte de un caso y revisión de la literatura. Rev Med Hosp Gen Mex 2001; 64(3): 152-6.

  7. Pallotta R, Fusilli P, Saponari A: Maffucci’s syndrome. Ital J Pediatr 2003; 29: 437-8.

  8. McDermott A-L, Dutt S, Chavda SV: Maffucci’s syndrome: clinical and radiological features of a rare condition. J Laryngol Otol 2001; 115: 845-7

  9. Dini LI, Isolan GR, Saraiva GA, Dini SA, Gallo P: Maffucci’s syndrome complicated by intracranial chondrosarcoma: two new illustrative cases. Arq Neuropsiquiatr 2007; 65(3B): 816-21.

  10. Hopyan S, Gokgoz N, Poon R, Gensure RC, Yu C, Cole WG, Bell RS, Jüppner H, Andrulis IL, Wunder JS, Alman BA: A mutant PTH/PTHrP type I receptor in enchondromatosis. Nature Genetics 2002; 30.

  11. Lopes A, Morini S, Vieira L, Talvane A: Chondrosarcoma secondary to hereditary multiple exostosis treated by extended internal hemipelvectomy. São Paulo Medical Journal 1997; 115(3): 1440-3.

  12. Kivioja A, Ervasti H, Kinnunen J, Kaitila I, Wolf M, Böhling T. Chondrosarcoma un a family with multiple hereditary exostoses. The Journal of Bone and Joint Surgery. 2000; 82(2): 261-6.

  13. Bovée JVMG: Multiple osteochondromas. Orphanet Journal of rare diseases. 2008; 3: 3.

  14. Kobayashi T, Asakawa H, Ogawa A, Kaneko K, Nakano Y, Tamaki Y, Morimoto S, Monden M: Hyperparathyroidism in a patient with Maffucci’s syndrome: A case report. Ann Saudi Med 1997; 17(4): 457-9.

  15. Silve C, Jüppner H: Review Ollier disease. Orphanet J Rare Dis 2006, 22: 1:37.

  16. Miyake M, Tateishi U, Maeda T, Arai Y, Hasegawa T, Sugimura K: MR Features of angiosarcoma in patient with Maffucci’s syndrome. Rad Med 2005; 23(7): 508-512. Unni KK: Cartilaginous lesions of bone. J Orthop Sci 2001; 6: 457-72.

  17. Maffucci A: Di un caso di encondroma ed angioma multipli. Contribuzione alla genesi embrionale dei tumor. Mov Med Chir 1981; 3: 399-412/565-75.

  18. Maffucci A: A case of enchondroma and multiple hemangioma [in Ital­ian]. Med Chir Napoli 1881; 3: 399-412.

  19. Ollier L: Dyschondroplasia[in Italian]. Bull Soc Lyon Med 1899; 93: 23-4.

  20. McDermott A-L, Dutt S, Chavda SV: Maffucci’s syndrome: clinical and radiological features of a rare condition. J Laryngol Otol 2001; 115: 845-7.

  21. Strang C, Rannie I: Dyschondroplasia with haemangiomata (Maffucci, syndrome). J Bone Joint Surg 1950; 32: 376-83.

  22. Ahmed AR, Tan TS, Unni KK, Collins MS, Wenger DE, Sim FH: Secondary chondrosarcoma in osteochondroma: report of 107 patients. Clin Orthop Relat Res 2003; 1(411): 193-206.

  23. Johnson JL, Webster JR, Sippy HI: Maffucci’s syndrome (dyschondroplasia with hemangiomas). Am J Med 1960; 28(5): 864-6.

  24. Sun TC, Swee RG, Shives TC, Unni KK: Chondrosarcoma in Maffucci´s syndrome. J bone Join Surg Am 1985; 67: 1214-9.

  25. Hunter D, Wiles P: Dischondroplasia (Ollier’s disease). Br J Surg 1935; 22: 507-19.

  26. Ozisik YY, Meloni AM, Spanier SS, Busch CH, Kingsley KL, Sandberg AA: Deletion lp in a low-grade chondrosarcoma in a patient with Ollier’s disease. Cancer Genet Cytogenet 1998; 105: 128-33.

  27. Collins PS, Han W, Williams LR, et al: Maffucci´s syndrome (hemangiomatosis osteolytica): a report of four cases. J Vasc Surg 1992; 16: 365-71.

  28. Pring M, Weber K, Unni K, Sim F: Chondrosarcoma of the pelvis: a review of sixty-four cases. J Bone Joint Surg Am 2001; 83-A: 1630-42.

  29. Wirbel R, Schulte M, Mutschler W: Surgical treatment of pelvic sarcomas: oncologic and functional outcome. Clin Orthop Relat Res 2001: 190-205.

  30. Ham SJ, Schraffordt Koops H, Veth RP, et al: External and internal hemipelvectomy for sarcomas of the pelvic girdle: consequences of limb-salvage treatment. Eur J Surg Oncol 1997; 23: 540-6.

  31. Little C: Ollier disease: an interdisciplinary approach. Orthop Nurs 1994; 13: 50-5.

  32. Mellon CD, Carter JE, Owen DB: Ollier´s disease and Maffucci´s syndrome: distinct entities or a continuum. Case report: enchondromatosis complicated by an intracranial glioma. Journal of Neurology 235: 376-8.

  33. Schwartz HS, Zimmerman NB, Simon MA, Wroble, RR, Millar, EA, Bonfiglio M: The malignant potential of enchondromatosis. Journal of Bone and Joint Surgery 69: 269-74.

  34. Cleaveland M, Fleiding JW: Chondrodysplasia (Ollier´s disease). Report of a case with a thirty-eigth year follow up. J Bone and Joint Surg 1959; 41-A: 1341-4.

  35. Fairbank HA: Dyschondroplasia. Synonyms Ollier´s disease multiple enchondromata. J Bone and Joint Surg 1948; 30-B(4): 689-708.




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