Maffucci's syndrome: a case report

Clin Rheumatol. 2006 Feb;25(1):88-91. doi: 10.1007/s10067-005-1101-1. Epub 2005 Oct 19.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Enchondromatosis / diagnostic imaging
  • Enchondromatosis / pathology*
  • Female
  • Hemangioendothelioma / pathology
  • Humans
  • Radiography
  • Skin Neoplasms / pathology