Clinical Rheumatology

, Volume 25, Issue 1, pp 88–91

Maffucci’s syndrome: a case report

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

DOI: 10.1007/s10067-005-1101-1

Cite this article as:
Faik, A., Allali, F., El Hassani, S. et al. Clin Rheumatol (2006) 25: 88. doi:10.1007/s10067-005-1101-1

Abstract

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.

Keywords

EnchondromatosisMaffucci’s syndrome

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