Clinical Rheumatology

, Volume 25, Issue 1, pp 88–91 | Cite as

Maffucci’s syndrome: a case report

  • Afaf Faik
  • Fadoua Allali
  • Selma  El Hassani
  • Najia Hajjaj-Hassouni
Case Report


Maffucci’s syndrome is a congenital nonhereditary syndrome characterized by a combination of enchondromatosis and hemangiomatosis. It is associated with an increased risk of malignancy. We report a case of a 24-year-old woman who developed severe bone distortion due to generalized enchondromas since the age of 2 years. Physical examination showed a marked shortening of both upper and lower limbs and cutaneous hemangioma in the legs. Radiological study showed symmetric well-circumscribed radiolucent cystic lesions in the hands and severe metaphysical irregularity and a shortening of all long bones. The biopsy of the third right metacarpal showed enchondroma tissue. Histological examination of the skin specimen showed a hemangioendothelioma. The diagnosis of Maffucci’s syndrome was established. Abdominal ultrasound, mammography, cerebral computed tomography (CT) scan, and cervical CT were normal.


Enchondromatosis Maffucci’s syndrome 


  1. 1.
    Nakamura K, Matsushita T, Haga N, Manabe N, Ishida T, Kurokawa T (1999) Swelling of the dorsum of the hand and/or foot can be a first sign of Maffucci syndrome. Arch Orthop Trauma Surg 119:470–473CrossRefPubMedGoogle Scholar
  2. 2.
    Hisaoka M, Aoki T, Kouho H, Chosa H, Hashimoto H (1997) Maffucci’s syndrome associated with cell hemangioendothelioma. Skeletal Radiol 26:191–194CrossRefPubMedGoogle Scholar
  3. 3.
    Saavedra J, Dimas M, Penich J et al (1964) Syndrome de Maffucci: communication of 2 cases et genetics study. Rev Med Hosp Gen Mex 27:571–578PubMedGoogle Scholar
  4. 4.
    Matsumoto N, Fukushima T, Tomonage M et al (1986) Maffucci’s syndrome with intracranial manifestation and chromosomal abnormalities: a case report. No Shinkei Geka 14:403–410PubMedGoogle Scholar
  5. 5.
    Paterson DC, Morris LL, Binns GF, Koslowsky K (1989) Generalized enchondromatosis. J Bone Joint Surg Am 71:133–140PubMedGoogle Scholar
  6. 6.
    Gabos PG, Bower JR (1998) Epiphyseal–metaphyseal enchondromatosis. A new clinical entity. J Bone Joint Surg Am 80:782–792PubMedGoogle Scholar
  7. 7.
    Benbouazza K, El Hassani S, Hassikou H, Guedira N, Hajjaj-Hassouni N (2002) Multiple enchondromatosis: a case report. Joint Bone Spine 69:236–239CrossRefPubMedGoogle Scholar
  8. 8.
    Mainzer F, Managi HL, Steinbach H (1971) The variable manifestations of multiple enchondromatosis. Radiology 99:377–388PubMedGoogle Scholar
  9. 9.
    Collins PS, Han W, Williams LR, Rich N, Lee JF, Villavicencio JL (1992) Maffucci’s syndrome (hemangiomatosis osteolytica): a report of four cases. J Vasc Surg 16:364–371CrossRefPubMedGoogle Scholar
  10. 10.
    Armstrong EA, McLennan JE, Benton C, Chambers AA, Perlman AW, Connors JW (1981) Maffucci’s syndrome complicated by intracranial chondrosarcoma and a carotid body tumor. J Neurosurg 55:479–483PubMedGoogle Scholar
  11. 11.
    Schwartz HS, Zimmerman NB, Simon MA, Wroble RR, Millar EA, Bonfiglio M (1987) The malignant potential of enchondromatosis. J Bone Joint Surg Am 69:269–274PubMedGoogle Scholar
  12. 12.
    Lewis RJ, Ketcham AS (1973) Maffucci’s syndrome, functional and neoplastic significance. J Bone Joint Surg Am 55:1465–1479PubMedGoogle Scholar
  13. 13.
    Tsuchiya H, Tomita K, Yasutake H, Takagi Y, Ueda Y, Kadoya M (1991) Maffucci’s syndrome combined with dedifferentiated chondrosarcoma. Arch Orthop Traum Surg 110:269–272CrossRefGoogle Scholar
  14. 14.
    Lee NH, Choi EH, Choi WK, Lee SH, Ahn SK (1999) Maffucci’s syndrome with oral and intestinal haemangioma. Br J Dermatol 140:963–991CrossRefPubMedGoogle Scholar
  15. 15.
    Flemming DJ, Murphey MD (2000) Enchondroma and chondrosarcoma. Semin Musculoskelet Radiol 4:59–71CrossRefPubMedGoogle Scholar
  16. 16.
    Haga N, Nakamura K, Taniguchi K, Nakamura S (1998) Enchondromatosis with features of dysspondyloenchondromatosis and Maffucci syndrome. Clin Dysmorphol 7:65–68PubMedGoogle Scholar
  17. 17.
    McDermott AL, Dutt SN, Chavda SV, Morgan DW (2001) Maffucci’s syndrome: clinical and radiological features of a rare condition. J Laryngol Otol 115:845–847CrossRefPubMedGoogle Scholar
  18. 18.
    Jermann M, Eid K, Pfammatter T, Stahel R (2001) Maffucci’s syndrome. Circulation 104:1693PubMedGoogle Scholar
  19. 19.
    Colonna G, Ascencio G, Meunier L, Guillot B (2002) Lymphangioma in a patient with Maffuci syndrome of the lower legs. J Mal Vasc 27:174–176PubMedGoogle Scholar
  20. 20.
    Zwenneke Flach H, Ginai AZ, Oosterhuis W (2001) Maffucci syndrome: radiologic and pathologic findings. Radiographics 21:1311–1316PubMedGoogle Scholar

Copyright information

© Clinical Rheumatology 2005

Authors and Affiliations

  • Afaf Faik
    • 1
  • Fadoua Allali
    • 1
  • Selma  El Hassani
    • 1
  • Najia Hajjaj-Hassouni
    • 1
  1. 1.Rheumatology B DepartmentEl Ayachi Hospital Rabat-Sale University HospitalSaleMorocco

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