en
Scientific article
Case report
English

A case of Maffucci syndrome

Published inChirurgie de la main, vol. 29, no. 1, p. 36-39
Publication date2010
Abstract

The Maffucci syndrome consists of a combination of multiple enchondromas and haemangiomas. It appears in the first two decades of life, with no family history. In this case we are reporting about a 26-year-old female who had suffered from multiple enchondromas since the age of two. At the age of nine, the patient presented with additional haemangiomas, which facilitated making proper diagnosis. She now presents with a massive lesion of her left upper extremity. The patient had initially rejected operative treatment when the disease was at early stages. At later stages, a more complex reconstruction of the hand would have been necessary to secure hand function. This procedure that sometimes induces a risk related to potential necessity of blood transfusion was rejected by the patient for religious reasons. Amputation of the extremity was therefore the last resort procedure.

Keywords
  • Adult
  • Amputation
  • Angiography
  • Cell Transformation, Neoplastic
  • Disease Progression
  • Enchondromatosis/*diagnosis/epidemiology/*surgery
  • Female
  • *Forearm
  • Humans
  • Osteotomy
  • Rare Diseases
  • Reconstructive Surgical Procedures
  • Surgical Flaps
  • Treatment Refusal
Citation (ISO format)
MATHYS, L., JENZER, A., DELLA SANTA, Dominique. A case of Maffucci syndrome. In: Chirurgie de la main, 2010, vol. 29, n° 1, p. 36–39. doi: 10.1016/j.main.2009.11.002
Main files (1)
Article
accessLevelRestricted
Identifiers
ISSN of the journal1297-3203
471views
0downloads

Technical informations

Creation05/23/2012 8:53:21 AM
First validation05/23/2012 8:53:21 AM
Update time03/14/2023 5:34:28 PM
Status update03/14/2023 5:34:28 PM
Last indexation02/12/2024 8:15:51 PM
All rights reserved by Archive ouverte UNIGE and the University of GenevaunigeBlack