Title: Ollier’s Disease: 1 Case Report & Literature Review

Authors: Dr Loknadh Rao, Dr Rajani Kumar Giddi, Dr Lalchawiliana Ngente, Dr V. Karimullah

 DOI: https://dx.doi.org/10.18535/jmscr/v11i6.16

Abstract

Ollier’s disease is a rare tumor of unknown etiology.

The main manifestation of this disease is a non‑ossifying chondrocyte mass or hamartomatous growth of a chondrocyte in the metaphysis. A few cases can develop into chondrosarcoma or osteosarcoma.

The present study describes the case of a 16‑year‑old female patient in King George Hospital, VSKP, Andra Pradesh, India seeking medical help for calf muscle cramps, stiffness, pain and non-progressive swelling of all fingers for the past 1 year.

The incidence of Ollier disease is low, and thus, it is not well‑known and due to its malignant transformation rate 20-30%, patients need to be followed up at regular intervals.

References

  1. Ollier L: De la dyschondroplasie, Bull Soc Chir Lyon 3:22, 1900.
  2. Mirra JM: Bone tumors: diagnosis and treatment, Philadelphia, 1980, Lippincott.
  3. Amary MF, Damato S, Halai D, Eskandarpour M, Berisha F, Bonar F, McCarthy S, Fantin VR, Straley KS, Lobo S, et al: Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. Nat Genet. 43:1262–1265. 2011.PubMed/NCBI View Article : Google Scholar
  4. Ahmed SK, Lee WC, Irving RM, et al: Is Ollier’s disease an understaging of Maffucci’s syndrome? J LaryngolOtol 113:861, 1999.
  5. Auyeung J, Mohanty K, Tayton K: Maffucci lymphangioma syndrome: an unusual variant of Ollier’s disease, a case report and a review of the literature, J Pediatr Orthop 12:147, 2003.
  6. Haga N, Nakamura K, Taniguchi K, et al: Enchondromatosis with features of dysspondyloenchondromatosis and Maffucci syndrome, Clin Dysmorphol 7:65, 1998.
  7. Kaplan RP, Wang JT, Amron DM, et al: Maffucci’s syndrome: two case reports with a literature review, J Am Acad Dermatol 29(5 Pt 2):894, 1993.
  8. Superti-Furga A, Spranger J and Nishimura G: Enchondromatosis revisited: New classification with molecular basis. Am J Med Genet C Semin Med Genet. 160C:154–164. 2012.PubMed/NCBI View Article : Google Scholar
  9. Fridirici ZC, Petrusek JJ, Thorpe EJ and Leonetti JP: Ollier disease of the lateral skull base. OtolNeurotol. 39:e52–e53. 2018.PubMed/NCBI View Article : Google Scholar
  10. Gajavelli S, Nakhla J, Nasser R, Yassari R, Weidenheim KM and Graber J: Ollier disease with anaplastic astrocytoma: A review of the literature and a unique case. SurgNeurol Int. 7 (Suppl 23):S607–S611. 2016.PubMed/NCBI View Article : Google Scholar
  11. Kenny SL, Patel K, Humphries A, Davis M, Flanagan AM and McCluggage WG: Ovarian cellular fibroma harbouring an isocitrate dehydrogenase 1 (1DH1) mutation in a patient with Ollier disease: Evidence for a causal relationship. Histopathology. 62:667–670. 2013. PubMed/NCBI View Article: Google Scholar
  12. Mandonnet E, Anract P, Martin E, Roujeau T, Spena G, Cormier-Daire V, Duffau H and Baujat G: Collaborators. Brain and skull base MRI findings in patients with Ollier-Maffucci disease: A series of 12 patient-cases. Clin NeurolNeurosurg. 160:147–151. 2017.PubMed/NCBI View Article : Google Scholar
  13. Moser T, Lin XZ, Bazille G, Fleury M, Dietemann JL and Kremer S: Progressive hemianopsia caused by intracranial enchondroma in Ollier disease. Neurology. 71(2018)2008.PubMed/NCBI View Article : Google Scholar
  14. Rietveld L, Nieboer TE, Kluivers KB, Schreuder HW, Bulten J and Massuger LF: First case of juvenile granulosa cell tumor in an adult with Ollier disease. Int J Gynecol Pathol. 28:464–467. 2009. PubMed/NCBI View Article : Google Scholar
  15. Sampagar AA, Jahagirdar RR, Bafna VS and Bartakke SP: Juvenile granulosa cell tumor associated with Ollier disease. Indian J Med Paediatr Oncol. 37:293–295. 2016.PubMed/NCBI View Article : Google Scholar
  16. Ramappa AJ, Lee FY, Tang P, et al: Chondroblastoma of bone, J Bone Joint Surg Am 82:1140, 2000.
  17. Sailhan F, Chotel F, Parot R: Chondroblastoma of bone in a pediatric population, J Bone Joint Surg Am 91:2159, 2009.
  18. Vaz RM and Turner C: Ollier disease (enchondromatosis) associated with ovarian juvenile granulosa cell tumor and precocious pseudopuberty. J Pediatr. 108:945–947. 1986.PubMed/NCBI View Article : Google Scholar
  19. Fanning CV, Sneige NS, Carrasco CH, et al: Fine needle aspiration cytology of chondroblastoma of bone, Cancer 65:1847, 1990.
  20. Hazarika D, Kumar RV, Rao CR, et al: Fine needle aspiration cytology of chondroblastoma and chondromyxoid fibroma: a report of two cases, Acta Cytol 38:592, 1994.
  21. Kilpatrick SE, Pike EJ, Geisinger KR, et al: Chondroblastoma of bone: use of fine-needle aspiration biopsy and potential diagnostic pitfalls, DiagnCytopathol 16:65, 1997.
  22. Sailhan F, Chotel F, Parot R: Chondroblastoma of bone in a pediatric population, J Bone Joint Surg Am 91:2159, 2009.
  23. Brien EW, Mirra JM, Ippolito V: Chondroblastoma arising from a nonepiphyseal site, Skeletal Radiol 24:220, 1995.
  24. Albregts AE, Rapini RP: Malignancy in Maffucci’s syndrome, Dermatol Clin 13:73, 1995.
  25. Ben-Itzhak I, Denolf FA, Versfeld GA, et al: The Maffucci syndrome, J PediatrOrthop 8:345, 1988.
  26. Hyde GE, Yarington CT Jr, Chu FW: Head and neck manifestations of Maffucci’s syndrome: chondrosarcoma of the nasal septum, Am J Otolaryngol 16:272, 1995.
  27. 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, J Neurol 235:376, 1988.
  28. Ramina R, Coelho Neto M, Meneses MS, et al: Maffucci’s syndrome associated with a cranial base chondrosarcoma: case report and literature review, Neurosurgery 41:269, 1997.
  29. Au WY, Ooi GC, Ma SK, et al: Chronic myeloid leukemia in an adolescent with Ollier’s disease after intensive x-ray exposure, Leuk Lymphoma 45:613, 2004.
  30. Rector JT, Gray CL, Sharpe RW, et al: Acute lymphoid leukemia associated with Maffucci’s syndrome, Am J Pediatr Hematol Oncol 15:427, 1993.
  31. Chew DK, Menelaus MB, Richardson MD: Ollier’s disease: varus angulation at the lower femur and its management, J PediatrOrthop 18:202, 1998.
  32. Pandey R, White SH, Kenwright J: Callus distraction in Ollier’s disease, Acta OrthopScand 66:479, 1995.
  33. Shapiro F: Ollier’s disease: an assessment of angular deformity, shortening, and pathological fracture in twenty-one patients, J Bone Joint Surg Am 64:95, 1982.
  34. Loder RT, Sundberg S, Gabriel K, et al: Determination of bone age in children with cartilaginous dysplasia (multiple hereditary osteochondromatosis and Ollier’s enchondromatosis), J Pediatr Orthop 24:102, 2004.
  35. Cook A, Raskind W, Blanton SH, et al: Genetic heterogeneity in families with hereditary multiple exostoses, Am J Hum Genet 53:71, 1993.
  36. Jesus-Garcia R, Bongiovanni JC, Korukian M, et al: Use of the Ilizarov external fixator in the treatment of patients with Ollier’s disease, Clin OrthopRelat Res 382:82, 2001.
  37. Kolodziej L, Kolban M, Zacha S, et al: The use of the Ilizarov technique in the treatment of upper limb deformity in patients with Ollier’s disease, J Pediatr Orthop 25:202, 2005.

Corresponding Author

Dr Loknadh Rao