Maffucci's syndrome: a 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.
Faik
Afaf
A
Rheumatology B Department, El Ayachi Hospital Rabat-Sale University Hospital, Sale, Morocco. faik_afaf@hotmail.com
Allali
Fadoua
F
El Hassani
Selma
S
Hajjaj-Hassouni
Najia
N
D000328:Adult; D004687:Enchondromatosis / Q000000981:diagnostic imaging / Q000473:pathology*; D005260:Female; D006390:Hemangioendothelioma / Q000473:pathology; D006801:Humans; D011859:Radiography; D012878:Skin Neoplasms / Q000473:pathology