Skeletal Radiol (2002) 31:479–483 DOI 10.1007/s00256-002-0483-2
Khalid Al-Ismail William C. Torreggiani Peter L. Munk John X. O’Connell Savvakis Nicolaou Bassam A. Masri
Received: 22 October 2001 Revised: 27 November 2001 Accepted: 16 January 2002 Published online: 15 March 2002 © ISS 2002
K. Al-Ismail · W.C. Torreggiani P.L. Munk (✉) Department of Radiology, Vancouver General Hospital, University of British Columbia, 899 West l2th Avenue, Vancouver, BC, Canada V5Z lM9 e-mail:
[email protected] Tel.: +1-604-8754533 Fax: +1-604-8754723
C A S E R E P O RT
Ollier’s disease in association with adjacent fibromatosis
Abstract Ollier’s disease (enchondromatosis) is a nonhereditary disorder of mesodermal dysplasia. It is characterized by the presence of multiple enchondromas that typically affect the metaphyseal ends of bones. The association of Ollier’s disease with adjacent fibromatosis has, to our knowledge, not been previously described. We report a case of Ollier’s disease in association with soft tissue fibromatosis adjacent to the involved upper arm.
Keywords Ollier’s disease · Fibromatosis · Arm · Radiograph · MRI
J.X. O’Connell · S. Nicolaou Department of Pathology, Vancouver General Hospital, University of British Columbia, 899 West l2th Avenue, Vancouver, BC, Canada V5Z lM9 B.A. Masri Department of Orthopaedics, Vancouver General Hospital, University of British Columbia, 899 West l2th Avenue, Vancouver, BC, Canada V5Z lM9
Introduction Ollier’s disease (enchondromatosis) is a nonhereditary disorder of mesodermal dysplasia. It is characterized by the presence of multiple enchondromas that typically affect the metaphyseal ends of bones. It usually becomes evident before puberty. It is frequently unilateral with involvement of the hemi-skeleton leading to shortening of the limbs. When enchondromatosis is present in association with subcutaneous hemangiomatosis, the disease is termed Maffucci’s syndrome [1]. The association of
Ollier’s disease with adjacent fibromatosis has, to our knowledge, not been previously described. We report a case of Ollier’s disease in association with soft tissue fibromatosis adjacent to the involved upper arm.
Case report A 30-year-old woman presented with a palpable lump in her proximal right arm that had grown progressively over the prior 8 months. She had a known history of Ollier’s disease since the age of 4 years with involvement of her entire right upper arm and right leg.
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demonstrated infiltrative growth within the skeletal muscle and was tightly adherent to the periosteum. The surgical resection margins were positive. The patient made an uneventful recovery and at 11 months follow-up shows no evidence of recurrent tumor.
Discussion
Fig. 1 Anteroposterior radiograph of the right humerus showing marked deformity involving the proximal metaphysis with the characteristic changes of multiple enchondromatosis
On examination, there was a firm, mobile soft tissue mass over the lateral aspect of the upper arm. It was slightly tender to touch and measured approximately 3 cm by 3 cm in size. The rest of the examination was unremarkable apart from the obvious limb shortening and deformity from her long-standing Ollier’s disease. Radiographs of the humerus showed evidence of multiple enchondromas within the diametaphysis as well as deformity and shortening of the humerus (Fig. 1). A CT scan (not shown) was then performed which again demonstrated multiple enchondromas within the humerus with the typical chondroid ring and arc calcifications. A 3-cm spiculated soft tissue mass was noted in the lateral aspect of the arm adjacent to the triceps muscle but with no evidence of osseous involvement. On MR imaging, the mass was of similar signal to the adjacent skeletal muscle on T1-weighted images (Fig. 2 A). There was uniform enhancement following administration of gadolinium (Fig. 2B). The epicenter of the mass was superficial to the triceps muscle but there was a component that extended intramuscularly through the triceps muscle (Fig. 2C). There was no extension to the underlying bone. Multiple enchondromas were visualized in the adjacent humerus. On the basis of the imaging findings the exact etiology of the mass was uncertain, but it was felt not to represent a hemangioma. The patient therefore underwent an ultrasound-guided biopsy of the mass. The diagnosis was fibromatosis and a complete surgical excision of the mass was performed (Fig. 3). The lesion measured 4.0 cm in maximum size and demonstrated a retracted stellate firm appearance within skeletal muscle. Microscopically the mass was composed of collagen-rich fascicles of myofibroblastic cells supported by a well-developed capillary network. The lesion
Enchondromatosis (Ollier’s disease) is a nonhereditary form of mesodermal dysplasia characterized by alteration of cartilaginous growth resulting in breaking off, or the incorporation within mature bone, of fragments of epiphyseal plate [2, 3, 4, 5]. It is usually manifested in early childhood with unilateral involvement of the skeleton, particularly affecting a limb. Involvement of the epiphyseal plate is associated with bone abnormalities or growth disturbances [4]. Histologically, the individual lesions are composed of lobules of chondrocytes of uniform appearance. The tumors are morphologically similar to solitary enchondromas. In Ollier’s disease there may be increased cellularity and focal atypia within lesions. This can be misinterpreted as malignancy but indicates only active growth of the disease rather than chondrosarcoma. The incidence of malignant transformation increases with progression of the disease in years, i.e., in adult life. It has been reported to be approximately 30–50%. Most malignancies are chondrosarcomas, although occasional osteosarcomas have been described [5]. The association of multiple enchondromas with soft tissue hemangiomas is well known (Maffucci’s syndrome). In addition, there are several reports of Ollier’s disease in association with intracerebral tumors [6, 7, 8] and ovarian lesions [9, 10]. There are, however, no previous reports of fibromatosis in association with adjacent Ollier’s disease. The musculoskeletal fibromatoses can be divided into two major groups: superficial and deep [11]. The superficial fibromatoses are typically small and slow-growing lesions such as palmar fibromatosis and plantar fibromatosis. The deep fibromatoses are commonly large and may grow rapidly, and include extra-abdominal desmoid tumor and aggressive infantile fibromatosis [11]. The lesion in our case falls into the deep category. Involvement of adjacent structures is common, reflecting the infiltrative growth pattern often seen in these lesions. The association of fibromatosis (extra-abdominal desmoid tumor) and Ollier’s disease has not been previously described. It may be argued that the association we report is completely coincidental, with two separate diseases simply occurring together. This may be so. However, the proximity of the fibromatosis to the adjacent diseased bone supports a common association. We feel that it is important to report this association to alert others to its possibility. There are other musculoskeletal associa-
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Fig. 2 A Coronal T1-weighted image (TR 600 ms, TE 16 ms) demonstrating the mass to be isointense to skeletal muscle, predominantly involving the subcutaneous tissue with extension to the triceps muscle. Deformity and signal change are present within the adjacent humerus characteristic of multiple enchondromatosis. B Coronal T1-weighted image (TR 600 ms, TE 16 ms) after intravenous gadolinium with fat saturation showing the intense enhancement of the intra- and extramuscular part of the mass. Note the medullary enchondromatous enhancement. C Trans-axial T1-weighted image (TR 566 ms, TE 16 ms) after intravenous gadolinium with fat saturation showing also the intense enhancement of the lesion. There is clear extension into the adjacent triceps muscle
tions. That between polyostotic fibrous dysplasia and intramuscular myxomas (Mazabraud’s syndrome), for example, initially thought to be extremely rare, is now recognized to be more common [12]. The reason for this is undoubtedly increased awareness of the association. Little is currently known of the molecular genetics and cytogenetics of Ollier’s disease. An interstitial deletion of the short arm of chromosome 1 [del(1) (p11p31.2)] has been described in a low-grade chondrosarcoma developing in a patient with Ollier’s disease [13]. This type of deletion is recognized also in spontaneous chondrosarcoma and is therefore likely relevant to chondrosarcomatous transformation. On the other hand
much is known regarding the molecular genetic events that underlie the development of the deep fibromatoses. Specifically mutations in the APC and beta-catenin genes are frequent findings that result in the unchecked cell proliferation that is one of the hallmarks of these lesions [14]. Additional investigations of patients with Ollier’s disease will be needed to see whether similar or overlapping molecular genetic abnormalities exist [13, 14].
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Fig. 3 A Low-power photomicrographic appearance of fibromatosis demonstrating moderately cellular fascicles of uniform myofibroblastic cells embedded within a collagenous background. The lesion extends between entrapped skeletal myocytes (magnification ×10, H&E stain). B High-power photomicrograph showing the plump myofibroblasts and a single entrapped myocyte (magnification ×40, H&E stain)
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