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Maffucci Syndrome

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Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes

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Abstract

Maffucci syndrome is characterized by the presence of multiple enchondromas, referred to as enchondromatosis, combined with multiple haemangiomas and/or lymphangiomas, as described by (1881). Both lesions tend to have an unilateral predominance (Albregts and Rapini 1995). Enchondromas are benign cartilaginous neoplasms and occur mainly in the tubular bones of hands and feet. Their presence in long bones can result in shortening and deformation of the limbs (Lewis and Ketcham 1973, Kaplan et al. 1993). Nowadays the World Health Organisation classifies the Maffucci syndrome as a subclass of enchondromatosis and defines it as a developmental disorder characterized by the presence of multiple cartilaginous masses and the presence of cutaneous, soft tissue or visceral haemangiomas (Mertens and Unni 2002).

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Authors and Affiliations

  1. Department of Pathology, Leiden University Medical Center, Leiden, Albinusdreef 2, 2333, ZA, The Netherlands

    Leida B. Rozeman, Yvonne M. Schrage, Judith V. M. G. Bovée & Pancras C. W. Hogendoorn

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  1. Leida B. Rozeman
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  2. Yvonne M. Schrage
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  3. Judith V. M. G. Bovée
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  4. Pancras C. W. Hogendoorn
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Editors and Affiliations

  1. Institute of Neurological Science, National Research Council, Catania, Italy

    Martino Ruggieri

  2. University Hospital La Paz, Madrid, Spain

    Ignacio Pascual-Castroviejo

  3. Institute of Neurosurgery, Catholic University of the Sacred Heart, Rome, Italy

    Concezio Di Rocco

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Rozeman, L.B., Schrage, Y.M., Bovée, J.V.M.G., Hogendoorn, P.C.W. (2008). Maffucci Syndrome. In: Ruggieri, M., Pascual-Castroviejo, I., Di Rocco, C. (eds) Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes. Springer, Vienna. https://doi.org/10.1007/978-3-211-69500-5_15

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