Journal of the Scientific Society

CASE REPORT
Year
: 2012  |  Volume : 39  |  Issue : 1  |  Page : 40--41

Osteochondromatosis: A rare clinical condition


Kiran Patil, Mahantesh Y Patil, Aditya Khemka 
 Department of Orthopedics, J.N.M.C. Belgaum, Karnataka, India

Correspondence Address:
Kiran Patil
Department of Orthopedics, J.N.M.C, Belgaum, Karnataka
India

Abstract

A case report of multiple hereditary exostosis / osteochondromatosis is presented. Exostosis is a benign cartilaginous lesion. Solitary lesions are called osteochondroma, while the presence of multiple lesions, an autosomal dominantly inherited genetic defect, is called osteochondromatosis. In extremely rare instances they may devolve into a chondrosarcoma, the chances of which are much higher in the presence of multiple lesions. We report a rare case of an eight-year-old girl who presented with multiple swellings arising from the metaphysial regions of the femur, tibia, fibula, and the radius. She was treated conservatively by us, and is currently being monitored regularly for any malignant change.



How to cite this article:
Patil K, Patil MY, Khemka A. Osteochondromatosis: A rare clinical condition.J Sci Soc 2012;39:40-41


How to cite this URL:
Patil K, Patil MY, Khemka A. Osteochondromatosis: A rare clinical condition. J Sci Soc [serial online] 2012 [cited 2021 Apr 20 ];39:40-41
Available from: https://www.jscisociety.com/text.asp?2012/39/1/40/96475


Full Text

 Introduction



An osteochondroma was first described by Sir Astley Cooper, in 1818. It is the most common benign developmental tumor of the appendicular skeleton, characterized by abnormal ectopic endochondral ossification around the physis. [1] Osteochondroma accounts for 34% of the benign cartilage tumors and 8% of all bone tumors. [2],[3] The tumor can be solitary or can manifest as multiple hereditary exostoses (MHE). Malignant degeneration into chondrosarcoma is very rare. [4],[5] These growths are comprised of bone surrounded by a cap of cartilage. A small number of these exostoses proceed to a low-grade chondrosarcoma. [6],[7] Although the disease can occur spontaneously, it has been estimated that 80% of the affected individuals have a positive family history. [2] Regions of the chromosomes involved were identified, localized, and eventually subjected to DNA sequencing.

We report a rare case of an eight-year-old girl, who presented with a multiple swellings, arising from the metaphysial regions of the Femur, Tibia, Fibula, and the Radius.

 Case Report



An eight-year-old girl presented in our Outpatient Department with a hard bony irregular swelling in the lateral aspect of the lower third of the leg, 5 × 5 × 4 cm. It had gradually increased in size from approximately 2 × 2 cm when first noticed over four years ago, to the present size. The swelling was nontender, irregular, fixed to the bone, separate from the lateral malleolus, and hard in consistency, arising from the anteromedial border of the tibia. The movements in the ankle joint were not restricted, and the rest of the movements of the knee and the subtalar joint were normal. There was no neurovascular deficit in the extremities. A plain radiograph of the lower third of the tibia was done and revealed findings consistent with sessile osteochondroma arising from the anteromedial aspect of the tibia [Figure 1]. A skiagram of the proximal tibia and the distal femur of the patient revealed a sessile osteochondroma arising from the head of the fibula [Figure 1]. A skiagram of the proximal femur also revealed a growth from the metaphysical region, along with a sessile growth when a scanogram of the wrist was done. Scanograms of the father and siblings did not reveal any similar swellings. It was decided to manage the condition conservatively as she was not symptomatic at the time of presentation. She was subsequently followed up with no evidence of increase in size. She has currently been advised a regular follow-up to be continued indefinitely or at least till skeletal maturation.{Figure 1}

 Discussion



Hereditary multiple osteocartilagenous exostosis or osteochondromatosis, also known as Bessel-Hagen disease, is an autosomal dominant trait in most patients, but in 10% of the cases it occurs spontaneously. [8],[9] It occurs in one out of 50 000 births and accounts for 14% of the patients with osteochondroma. Abnormalities at chromosomal locus 8q24, [9] and mutations at loci 11p [9],[10] and 19p, may also produce the phenotype. A malignant change occurs in 1 and 5 - 15% of the solitary and multiple forms, respectively, and seems to be related to the EXT family of tumor suppressor genes. [10],[11] Axial skeleton osteochondromas have a higher rate of malignant degeneration than the appendicular skeleton. Patients with multiple lesions tend to present at a younger age (within the first decade) than individuals with the solitary form, [12] where clinical symptoms are most likely to occur during the second or third decade of life and may reflect soft tissue involvement. The most common physical finding is a nontender, palpable mass, at the distal end of the femur (70%) and proximal end of the humerus (50%), the tibia (70%) or fibula (30%). [8] Growth stops when skeletal maturation occurs. Occasionally exostosis affects the pelvis, scapula, and ribs. The involvement of small bones of the hands and feet is rare. [13],[14] They may impair the development of the long bones of the extremities, leading to a short stature. [13],[15] The risk of chondrosarcoma is greater in patients with enchondromatosis syndromes, such as Ollier disease and the Maffucci syndrome, and in those with hereditary multiple exostoses. As there is spontaneous regression in some osteochondromas, not all asymptomatic lesions should be treated surgically. [16] Close monitoring is necessary in patients with large, growing long-bone osteochondromas (nerve and vascular compression) and in patients with femoral head involvement. [17]

However, the purpose of this study was not to present the treatment of multiple exostoses, but to reinforce its incidence and typical presentation and to show that it did not have a familial history, which is rare and seen only in 10%, and that it needs constant monitoring. [8],[9]

References

1Brien EW, Mirra JM, Kerr R. Benign and malignant cartilage tumors of bone and joint: Their anatomic and theoretical basis with an emphasis on radiology, pathology and clinical biology. I. The intramedullary cartilage tumors. Skeletal Radiol 1997;26:325-53.
2Dahlin DC, Unni KK. Bone tumors: General aspects and data on 11,087 cases. 5 th ed. Philadelphia: Lippincott-Raven; 1996.
3Albrecht S, Crutchfield JS, SeGall GK. On spinal osteochondromas. J Neurosurg 1992;77:247-52.
4Prevedello DM, Cordeiro JG, Koerbel A, Ditzel LF, Araújo JC. Management of primary spinal chondrosarcoma: Report of two cases causing cord compression. Arq Neuropsiquiatr 2004;62:875-8.
5Hirsh LF, Thanki A, Spector HS. Primary spinal chondrosarcoma with eighteen-year follow up: Case report and literature review. Neurosurgery 1984;14:747-9.
6Schmale GA, Conrad EU 3rd, Raskind WH. The natural history of hereditary multiple exostoses. J Bone Joint Surg Am 1994;76:986-92.
7Hecht JT, Hogue D, Strong LC, Hansen MF, Blanton SH, Wagner M. Hereditary multiple exostosis and chondrosarcoma: Linkage to chromosome II and loss of heterozygosity for EXT-linked markers on chromosomes II and 8. Am J Hum Genet 1995;56:1125-31.
8Schmale GA, Conrad EU 3rd, Raskind WH. The natural history of hereditary multiple exostoses. J Bone Joint Surg Am 1994;76:986-92.
9Pierz KA, Steiber JR, Kusumi K. Hereditary multiple exostoses: One center's experience and review of etiology. Clin Orthop Relat Res 2002;401:49-59.
10Stickens D, Clines G, Burbee D. The EXT2 multiple exostoses gene defines a family of putative tumor suppressor genes. Nat Genet 1996;14:25-32.
11Wise CA, Clines GA, Massa H. Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family. Genome Res 1997;7:10-6.
12Scot DL, Pedlow FX, Hecht AC, Hornicek FJ, Tumors A. Primary benign and malignant extradural spine tumors. In: Frymoyer JW, Wiesel SW, editors. The adult and paediatric spine. 3 rd ed., vol. 1. Philadelphia: Lippincott Williams and Wilkins; 2004. p. 204-5.
13Robbin SL, Cotran RS, Kumar V. The Musculoskeletal System: Robbins's Pathologic Basis of Diseases. Philadelphia: Saunders; 1984. p. 1321-3.
14Cirak B, Karabulut N, Pulaoglu S. Cervical osteochondroma as a cause of spinal cord compression in a patient with hereditary multiple exostoses. Computed tomography and magnetic resonance imaging findings. Aust Radiol 2002;46:309.
15Steiber JR, Oormans JP. Manifestation of hereditary multiple exostoses. J Am Acad Orthop Surg 2005;13:110-20.
16Bassett GS, Cowell HR. Metachondromatosis. Report of four cases. J Bone Joint Surg Am 1985;67:811-4.
17Wenger DR, Birch J, Rathjen K, Tobin R, Billman G. Metachondromatosis and avascular necrosis of the femoral head: A radiographic and histologic correlation. J Pediatr Orthop 1991;11:294-300.