Aсroform of dyschondroplasia (literature review) 
 

Krys-Puhach A. P., Huk Yu. M., Luchko R. V., Molnar I. O.

SI Institute of Traumatology and Orthopedics of National Academy of Medical Sciences of Ukraine, Kyiv 
 

The presence of multiple enchondromas in patients is diagnosed as multiple enchondromatosis. This pathology combines several different subtypes of the disease — Ollier disease and Maffucci syndrome (multiple enchondromatosis associated with soft tissue hemangiomas), which are the most common. Sometimes, multiple enchondromatosis has a complicated clinical course, if malignant transformation occurs, which is a well known fact, especially in acroform of Ollier disease, but there is still a lack of information and recommendations on this issue.

Key words: acroform, dyschondroplasia.

References

1. Arenberg AA. 1964. Dishondroplaziya kostey (klinika, diagnostika, lechenie). Avtoref dis. kand med nauk, TsITO. M: 16.

2. Volkov MV. 1985. Bolezni kostey u detey. M, Meditsina.

3. Kasyimov IA. 2000. Kostno-plasticheskie operativnyie vmeshatelstva u detey s kostnoy patologiey. Avtoref dis. d-ra med. nauk. M: 40.

4. Kosinskaya NS. 1966. Narusheniya razvitiya kosino-sustavnogo aparata. L, Meditsina.

5. Luchko RV, Krysiuk AP. 1998. Zastosuvannia biokompozytiv pry operatyvnomu likuvanni akroformy pry dyskhondroplazii. Mat-ly Vseukr nauk-prakt konferentsii ortom-travm. Kyiv-Ievpatoriia: 129-131.

6. Luchko RV. 1996. Deformatsii i ukorocheniya konechnostey pri dishondroplazii. Dis. kand. med. nauk. UkrNIITO. K: 200.

7. Luchko RV. 1999. Nove u khirurhichnomu likuvanni akroformy dyskhondroplazii. Trudyi Kryimskogo meditsinskogo universiteta im SI Geogrgievskogo. 135; 2.

8. Mezhdunarodnaya statisticheskaya klassifikatsiya bolezney i problem, svyazannyih so zdorovem. 10-y peresmotr. Vsemirnaya organizatsiya zdravoohraneniya. M, Meditsina. 1998.

9. Rusakov AV. 1959. Patologicheskaya anatomiya bolezney kostnoy sistemyi. Vvedenie v fiziologiyu i patologiyu kostnoy sistemyi. M.

10. Sadyihov AG, Mirdzhavadova AK, Shizamanov AM. 1988. Zlokachestvennyie pererozhdeniya nekotoryih displasticheskih zabolevaniy skeleta. 5-y Vsesoyuz s'ezd travm-ortop. M. 2: 164-165.

11. Serb SK. 2007. Hirurgicheskoe lechenie dobrokachestvennyih opuholey kostey kisti. Dis. kand. med. nauk. spets. 14.00.22. Travmatologiya-ortopediya. SPb: 141.

12. Solovev YuN. 1970. Opuholi kostey. Materialyi k morfologii i patogenezu. Avtoref dis. d-ra med. nauk. IEiKO AMN SSSR. M: 32.

13. Usoltseva BV, Mashkara KI. 1986. Hirurgiya zabolevaniy i povrezhdeniy kisti. M. 3-e izd, pererab i dop.

14. Utson Dzhons R. 1972. Perelomyi kostey i povrezhdeniya sustavov. Per s angl. M, Meditsina: 672.

15. Chaklin VD. 1974. Opuholi kostey i sustavov. M, Meditsina.

16. Sholohova NA. 2010. Hirurgicheskoe lechenie dobrokachestvennyih opuholey i opuholepodobnyih zabolevaniy vnutri- i okolosustavnoy lokalizatsii u detey i podrostkov. Avtoref dis. kand. med. nauk. GOU DPO Rossiyskaya meditsinskaya akademiya poslediplomnogo obrazovaniya. M: 19.

17. Sholohova NA, Morgun VA, Semenova LA. 2007. Dobrokachestvennyie opuholi i opuholepodobnyie zabolevaniya kostey vnutri- i okolosustavnoy lokalizatsii u detey (diagnostika i lechenie). Detskaya onkologiya. 3–4: 68-75.

18. Alexandre C, Jacinto A, Ingham PW. 1996. Transcriptional activation of hedgehog target genes in Drosophila is mediated directly by the cubitus interruptus protein, a member of the GLI family of zinc finger DNA-binding proteins. Genes Dev. 10: 2003-13.

19. Amling M, Neff L, Tanaka S, Inoue D, Kuida K, Weir E, Philbrick WM, Broadus AE, Baron R. 1997. Bcl-2 lies downstream of parathyroid hormone related peptide in a signalling pathway that regulates chondrocyte maturation during skeletal development. J Cell Biol. 136: 205-13.

20. Auyeung J, Mohanty K, Tayton K. 2003. Maffucci lymphangioma syndrome: an unusual variant of Ollier’s. J Pediatr Orthop. B. 12: 147-50.

21. Baumgart R, Burklein D, Hinterwimmer S, Thaller P, Mutschler W. 2005. The management of leg-length discrepancy in Ollier’s disease with a fully implantable lengthening nail. J Bone Joint Surg Br. 87: 1000-4.

22. Benbouazza K, El Hassani S, Hassikou H, Guedira N, Hajjaj-Hassouni N. 2002, Mar. Multiple enchondromatosis: a case report. Joint Bone Spine. 69(2): 236-9.

23. Bertoni F, Bacchini P, Hogendoorn PCW. 2002. Chondrosarcoma. World Health Organisation classification of tumours. Fletcher CDM, Unni KK, Mertens F, editors. Pathology and genetics of tumours of soft tissue and bone. Lyon, IARC Press: 247-51.

24. Bovee JV, Cleton-Jansen AM, Kuipers-Dijkshoorn NJ, van den Broek LJ, Taminiau AH, Cornelisse CJ, Hogendoorn PC. 1999. Loss of heterozygosity and DNA ploidy point to a diverging genetic mechanism in the origin of peripheral and central chondrosarcoma. Genes Chromosomes Cancer. 26: 237-246.

25. Bovee JV, van Roggen JF, Cleton-Jansen AM, Tami niau AH, van der Woude HJ, Hogendoorn PC. 2000. Malignant progression in multiple enchondromatosis (Ollier’s disease): an autopsy-based molecular genetic study. Hum Patho. 31: 1299-1303.

26. Bovйe JVMG, Van den Broek LJCM, Cleton-Jansen AM, Hogendoorn PCW. 2000. Up-regulation of PTHrP and Bcl-2 expression characterizes the progression of osteochondroma

towards peripheral chondrosarcoma and is a late event in central chondrosarcoma. Lab Invest. 80: 1925-33.

27. Bukte Y, Necmioglu S, Nazaroglu H, Kilinc N, Yilmaz F. 2005. A case of multiple chondrosarcomas secondary to severe multiple symmetrical enchondromatosis (Ollier’s disease) at an early age. Clin Radiol. 60: 1306-10.

28. Couvineau A, Wouters V, Bertrand G, Rouyer C, Gerard B, Boon LM, Grandchamp B, Vikkula M, Silve C. 2008. PTHR1 mutations associated with Ollier disease result in receptor loss of function. Hum Mol Genet. 17: 2766-75.

29. D’Angelo L, Massimi L, Narducci A, Di RC. 2009. Ollier di sease. Childs Nerv Syst. 25: 647-53.

30. Eefting D., Schrage Y.M., Geirnaerdt M.J., Le Cessie S., Taminiau A.H., Bovee J.V.M.G., Hogendoorn P.C.W. Assessment of interobserver variability and histologic parameters to improve reliability in classification and grading of central cartilaginous tumors // Am. J. Surg. Pathol. 2009; 33: 50-7.

31. Flemming DJ, Murphey MD. 2000. Enchondroma and chondrosarcoma. Semin Musculoskelet Radiol. 4: 59-71.

32. Herget GW, Strohm P, Rottenburger C, Kontny U, KrauЯ T, Bohm J, Sudkamp N, Uhl M. 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.

33. Gabos PG, Bowen JR. 1998. Epiphyseal-metaphyseal enchondromatosis. A new clinical entity. J Bone Joint Surg Am. 80: 782-792.

34. Geirnaerdt MJ, Hogendoorn PCW, Bloem JL, Taminiau AHM, Van der Woude HJ. 2000. Cartilaginous tumors: fast contrastenhanced MR imaging. Radiology. 214: 539-46.

35. Goto T, Motoi T, Komiya K, Motoi N, Okuma T, Okazaki H, Takatori Y, Tange T, Nakamura K. 2003 Feb. Chondrosarcoma of the hand secondary to multiple enchondromatosis; report of two cases. Arch Orthop Trauma Surg. 123(1): 42-7.

36. Haga N, Nakamura K, Taniguchi K, Nakamura S. 1998. Enchondromatosis with features of dysspondyloenchondromatosis and Maffucci syndrome. Clin Dysmorphol. 7: 65-8.

37. Halal F, Azouz EM. 1991. Generalized enchondromatosis in a boy with only platyspondyly in the father. Am J Med Genet. 38: 588-592.

38. Halal F, Azouz EM. 1991. Generalized enchondromatosis in a boy with only platyspondyly in the father. Am J Med Genet. 38: 588-92.

39. Herman TE, Chines A, McAlister WH, Gottesman GS, Eddy MC, Whyte MR. 1997. Metachondromatosis: Report of a family with facial features mildly resembling trichorhinophalangeal syndrome. Pediatr Radiol. 27: 436-441.

40. Hopyan S, Gokgoz N, Poon R, Gensure RC, Yu C, Cole WG, Bell RS, Juppner H, Andrulis IL, Wunder JS, Alman BA. 2002. A mutant PTH/PTHrP type I receptor in enchondromatosis. Nat Genet. 30: 306-310.

41. Kozlowski KS, Masel J. 2002. Distinctive enchondromatosis with spine abnormality, regressive lesions, short stature, and coxa vara: importance of long-term follow-up. Am J Med Genet. 107: 227-32.

42. Kronenberg HM. 2003. Developmental regulation of the growth plate. Nature. 423: 332-336.

43. Liu J, Hudkins P, Swee R at al. 1987. Bone sarcomas asso ciated with Ollier’s deseasse. Cancer. 59: 1376-1385.

44. Loder RT, Sundberg S, Gabriel K, Mehbod A, Meyer C. 2004. Determination of bone age in children with cartilaginous dysplasia (multiple hereditary osteochondromatosis and Ollier’s enchondromatosis). J Pediatr Orthop. 24: 102-108.

45. Lucas DR, Bridge JA. 2002. Chondromas: enchondroma, periosteal chondroma,and enchondromatosis. World Health Organization classification of tumours. Fletcher CDM, Unni KK, Mertens F, editors. Pathology and genetics of tumours of soft tissue and bone. Lyon, IARC Press: 237-40.

46. Maroteaux P, Le Merrer M. 2002. Les maladies osseuses de l’enfant. Paris, Medecine-Sciences, Flammarion.

47. Mдrtson A, Haviko T, Kirjanen K. 2005. Extensive limb leng thening in Ollier`s disease: 25-year follow-up Medicina (Kaunas). 41(10): 861-6.

48. Mertens F, Unni KK. 2002. Enchondromatosis: Ollier disease and Maffucci syndrome. World Health Organization Classification of Tumours. Fletcher CDM, Unni KK, Mertens F, editors. Pathology and genetics of tumours of soft tissue and bone. Lyon, IARC Press: 356-7.

49. Michael W. Chapman, MD Operative Orthopaedics, Se cond Edition, Volume 2, Philadelphia.

50. Pandey R, White SH, Kenwright J. 1995. Callus dis traction in Ollier’s disease. Acta Orthop Scand. 66: 479-80.

51. Pannier S, Legeai-Mallet L. 2008, Mar. Hereditary multiple exostoses and enchondromatosis. Best Practice & Research Clinical Rheumatology. 22(1): 45-54.

52. Pansuriya TC, Bovйe JVMG. 2008, July. Enchondromatosis. Atlas Genet Cytogenet Oncol Haematol.

53. Ranger A, Szymczak A. 2009, Dec. Do intracranial neoplasms differ in Ollier disease and maffucci syndrome? An in-depth analysis of the literature. Neurosurgery. 65(6): 1106-13; discussion 1113-5.

54. Rozeman LB, Hameetman L, van Wezel T, Taminiau AHM, Cleton-Jansen AM, Hogendoorn PCW, Bovйe JVMG. 2005. cDNA expression profiling of central chondrosarcomas: Ollier disease resembles solitary tumors and alteration in genes coding for energy metabolism with increasing grade. J Pathol. 207: 61-71.

55. Rozeman LB, Hogendoorn PCW, Bovйe JVMG. 2002. Diagnosis and prognosis of chondrosarcoma of bone. Expert Rev Mol Diagn. 2: 461-72.

56. Rozeman LB, Sangiorgi L, Briaire-de Bruijn IH, Mainil-Varlet P, Bertoni F, Cleton-Jansen AM, Hogendoorn PC, Bovйe JV. 2004. Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C. Hum Mutat. 24: 466-473.

57. Sandberg AA, Bridge JA. 2003. Updates on the cytogenetics and molecular genetics of bone and soft tissue tumors: chondrosarcoma and other cartilaginous neoplasms. Cancer Genet Cytogenet. 143: 1-31.

58. Sandberg AA. 2004. Genetics of chondrosarcoma and related tumors. Curr Opin Oncol. 16: 342-354.

59. Schaison F, Anract P, Coste F, De Pinieux G, Forest M, Tomeno B. 1999. Chondrosarcoma secondary to multiple cartilage diseases. Study of 29 clinical cases and review of the literature. Rev Chir Orthop Reparatrice Appar Mot. 85 :834-845.

60. Schipani E, Provot S. 2003. PTHrP, PTH, and the PTH/ PTHrP receptor in endochondral bone development. Birth Defects Res Part C Embryo Today. 69: 352-362.

61. Schrage YM, Hameetman L, Szuhai K, Cleton-Jansen AM, Taminiau AHM, Hogendoorn PCW, Bovйe JVMG. 2009. Aberrant heparan sulfate proteoglycan localization, despite normal exostosin, in central chondrosarcoma. Am J Pathol. 174: 979-88.

62. Schwartz HS, Zimmerman NB, Simon MA, Wroble RR, Millar EA, Bonfiglio M. 1987. The malignant potential of enchondromatosis. J Bone Joint Surg Am. 69: 269-274.

63. Silve C, Juppner H. 2006. Ollier disease. Orphanet J Rare Dis. 1: 37.

64. Spranger JW, Brill PW, Poznanski AK. 2002. Bone Dysplasias, An Atlas of Genetic Disorders of Skeletal Development. Second ed. New York, Oxford University Press: 554-70.

65. Twinkal C Pansuriya, Herman M Kroon, Judith VMG, Bovйe JVMG. 2010. Enchondromatosis: insights on the different subtypes. Int J Clin Exp Pathol. 3(6): 557-569.

66. Unni KK. 2001. Cartilaginous lesions of bone. J Orthop Sci. 6: 457-472.

67. Urist MR. 1989. A 37-year follow-up evaluation of multiplestage femur and tibia lengthening in dyschondroplasia (enchondromatosis) with a net gain of 23.3 centimeters. Clin Orthop Relat Res. 1: 37-57.

68. Van LP, Lammens J. 2008. Malformation of the humerus in a patient with Ollier disease treated with the Ilizarov technique. J Shoulder Elbow Surg. 17: e9-11.

69. Vбzquez-Garcнa B, Valverde M, San-Juliбn M. 2011, Mar. Ollier disease: benign tumours with risk of malignant transformation. A review of 17 cases. An Pediatr (Barc). 74(3): 168-73.

70. Verdegaal SH, Bovйe JV, Pansuriya TC, Grimer RJ, Ozger H, Jutte PC, San Julian M, Biau DJ, van der Geest IC, Leithner A, Streitbьrger A, Klenke FM, Gouin FG, Campanacci DA, Marec-Berard P, Hogendoorn PC, Brand R, Taminiau AH. 2011. Incidence, predictive factors, and prognosis of chondrosarcoma in patients with Ollier disease and Maffucci syndrome: an international multicenter study of 161 patients. Oncologist. 16(12).

71. Veth R, Schreuder B, van Beem H, Pruszczynski M, de Rooy J. 2005. Cryosurgery in aggressive, benign, and lowgrade malignant bone tumours. Lancet Oncol. 6: 25-34.

72. Vortkamp A, Lee K, Lanske B, Segre GV, Kronenberg HM, Tabin CJ. 1996. Regulation of rate of cartilage differentiation by indian hedgehog and PTH-related protein. Science. 273: 613-22.

73. Walid MS, Troup EC. 2008. Cerebellar anaplastic astrocytoma in a teenager with Ollier Disease. J Neurooncol. 89: 59-62.

74. Watanabe K, Tsuchiya H, Sakurakichi K, Yamashiro T, Matsubara H, Tomita K. 2007, Sep. Treatment of lower limb deformities and limb-length discrepancies with the external fixator in Ollier’s disease. J Orthop Sci. 12(5): 471-5.

75. Whyte M. 2003. Acquired Disorders of Cartilage and Bone. Washington DC, American Society for Bone and Mineral Research.