Title |
Maffucci’s syndrome: a case report
|
---|---|
Published in |
Clinical Rheumatology, October 2005
|
DOI | 10.1007/s10067-005-1101-1 |
Pubmed ID | |
Authors |
Afaf Faik, Fadoua Allali, Selma El Hassani, Najia Hajjaj-Hassouni |
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. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 7 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 2 | 29% |
Student > Bachelor | 1 | 14% |
Student > Doctoral Student | 1 | 14% |
Researcher | 1 | 14% |
Student > Postgraduate | 1 | 14% |
Other | 0 | 0% |
Unknown | 1 | 14% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 6 | 86% |
Unknown | 1 | 14% |