Abstract
Maffucci syndrome is a rare, sporadic disease characterized by the development of multiple enchondromas and subcutaneous hemangiomas. Patients with Maffucci syndrome have a 23–37% risk of malignancy, with chondrosarcomas being the most common. Although the development of a chondrosarcoma in a patient with Maffucci syndrome may be expected, intracranial chondrosarcomas are rare. We present a patient with Maffucci syndrome who was diagnosed with an intracranial chondrosarcoma after presenting with hearing loss and vomiting. After three craniotomies and two recurrences of chondrosarcoma of the right skull base, the patient demonstrated a positive outcome to treatment with external radiation therapy.
Similar content being viewed by others
References
Enneking WF, Spanier SS, Goodman MA. A system for the surgical staging of musculoskeletal sarcoma. Clin Orthop Relat Res 1980; 153: 106–20
Albregts AE, Rapini RP. Malignancy in Maffucci’s syndrome. Dermatol Clin 1995; 13 (1): 73–8
Sun TC, Swee RG, Shives TC, et al Chondrosarcoma in Maffucci’s syndrome. J Bone Joint Surg Am 1985; 67 (8): 1214–9
McDermott AL, Dutt SN, Chavda SV, et al Maffucci’s syndrome: clinical and radiological features of a rare condition. J Laryngol Otol 2001; 115 (10): 845–7
Tachibana E, Saito K, Takahashi M, et al Surgical treatment of a massive chondrosarcoma in the skull base associated with Maffucci’s syndrome: a case report. Surg Neurol 2000; 54 (2): 165–9
Lewis RJ, Ketcham AS. Maffucci’s syndrome: functional and neoplastic significance. Case report and review of the literature. J Bone J Surg 1973; 55-A: 1465–9
Kaplan RP, Wang JT, Amron DM, et al Maffucci’s syndrome: two case reports with a literature review. J Am Acad Dermatol 1993; 29 (5 Pt 2): 894–9
Goto T, Motoi T, Komiya K, et al Chondrosarcoma of the hand secondary to multiple enchondromatosis: report of two cases.Arch Orthop Trauma Surg 2003; 123 (1): 42–7
Ramina R, Coelho Neto M, Meneses MS, et al Maffucci’s syndrome associated with a cranial base chondrosarcoma: case report and literature review. Neuro-surgery 1997; 41 (1): 269–72
Schwartz HS, Zimmerman NB, Simon MA, et al The malignant potential of enchondromatosis. J Bone Joint Surg Am 1987; 69 (2): 269–74
Sperling BL, Angel S, Stoneham G, et al Synovial chondromatosis and chon-drosarcoma: a diagnostic dilemma. Sarcoma 2003; 7 (2): 69–73
Bovee JV, Van den Broek LJ, Cleton-Jansen AM, et al 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 2000; 80 (12): 1925–34
Muro-Cacho CA. The role of immunohistochemistry in the diagnosis of primary tumors of the bone. Cancer Control 1998; 5 (6) [online].Available from URL:(http://www.moffitt.org/moffittapps/ccj/v5n6/department6.html)[Accessed 2007 Nov 22]
O’Hara BJ, Paetau A, Miettinen M. Keratin subsets and monoclonal antibody HBME-1 in chordoma: immunohistochemical differential diagnosis between tumors simulating chordoma. Hum Pathol 1998; 29 (2): 119–26
Park YK, Yang MH, Park HR. The impact of osteonectin for differential diagnosis of osteogenic bone tumors: an immunohistochemical and in situ hybridization approach. Skeletal Radiol 1996; 25 (1): 13–7
Acknowledgments
No sources of funding were used to assist in the preparation of this case report. The authors have no conflicts of interest that are directly relevant to the content of this case report.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Abdelmalek, M., Stanko, C. Recurrent Chondrosarcoma of the Right Skull Base in a Patient with Maffucci Syndrome. Am J Clin Dermatol 9, 61–65 (2008). https://doi.org/10.2165/00128071-200809010-00008
Published:
Issue Date:
DOI: https://doi.org/10.2165/00128071-200809010-00008