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Maffucci’s syndrome: a case report

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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.

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Authors and Affiliations

  1. Rheumatology B Department, El Ayachi Hospital Rabat-Sale University Hospital, Sale, Morocco

    Afaf Faik, Fadoua Allali, Selma El Hassani & Najia Hajjaj-Hassouni

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  1. Afaf Faik
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  2. Fadoua Allali
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  3. Selma El Hassani
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  4. Najia Hajjaj-Hassouni
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Correspondence to Afaf Faik.

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Faik, A., Allali, F., El Hassani, S. et al. Maffucci’s syndrome: a case report. Clin Rheumatol 25, 88–91 (2006). https://doi.org/10.1007/s10067-005-1101-1

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  • DOI: https://doi.org/10.1007/s10067-005-1101-1

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