Maffucci syndrome

Common Name(s)

Maffucci syndrome

Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by multiple enchondromas (benign enlargements of cartilage), bone deformities, and hemangiomas (tangles of abnormal of blood vessels).  The abnormal growths associated with Maffucci syndrome may become cancerous (malignant). In particular, affected individuals may develop bone cancers called chondrosarcomas, especially in the skull. They also have an increased risk of other cancers, such as ovarian or liver cancer. The underlying cause of Maffucci syndrome is unknown. No specific genes related to this disorder have been identified. Researchers suggest that the condition may be associated with abnormalities occurring before birth in the development of two embryonic cell layers called the ectoderm and the mesoderm.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Maffucci syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Maffucci syndrome" returned 9 free, full-text research articles on human participants. First 3 results:

Incidence, predictive factors, and prognosis of chondrosarcoma in patients with Ollier disease and Maffucci syndrome: an international multicenter study of 161 patients.
 

Author(s): Suzan H M Verdegaal, Judith V M G Bovée, Twinkal C Pansuriya, Robert J Grimer, Harzem Ozger, Paul C Jutte, Mikel San Julian, David J Biau, Ingrid C M van der Geest, Andreas Leithner, Arne Streitbürger, Frank M Klenke, Francois G Gouin, Domenico A Campanacci, Perrine Marec-Berard, Pancras C W Hogendoorn, Ronald Brand, Antonie H M Taminiau

Journal: Oncologist. 2011 ;16(12):1771-9.

 

Enchondromatosis is characterized by the presence of multiple benign cartilage lesions in bone. While Ollier disease is typified by multiple enchondromas, in Maffucci syndrome these are associated with hemangiomas. Studies evaluating the predictive value of clinical symptoms for development ...

Last Updated: 2 Jan 2012

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Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome.
 

Author(s): Twinkal C Pansuriya, Ronald van Eijk, Pio d'Adamo, Maayke A J H van Ruler, Marieke L Kuijjer, Jan Oosting, Anne-Marie Cleton-Jansen, Jolieke G van Oosterwijk, Sofie L J Verbeke, Daniëlle Meijer, Tom van Wezel, Karolin H Nord, Luca Sangiorgi, Berkin Toker, Bernadette Liegl-Atzwanger, Mikel San-Julian, Raf Sciot, Nisha Limaye, Lars-Gunnar Kindblom, Soeren Daugaard, Catherine Godfraind, Laurence M Boon, Miikka Vikkula, Kyle C Kurek, Karoly Szuhai, Pim J French, Judith V M G Bovée

Journal:

 

Ollier disease and Maffucci syndrome are non-hereditary skeletal disorders characterized by multiple enchondromas (Ollier disease) combined with spindle cell hemangiomas (Maffucci syndrome). We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution ...

Last Updated: 28 Nov 2011

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Maffucci syndrome complicated with meningioma and pituitary adenoma.
 

Author(s): Sachiko Ono, Hideaki Tanizaki, Akihiro Fujisawa, Miki Tanioka, Yoshiki Miyachi

Journal: Eur J Dermatol. ;22(1):130-1.

 

Last Updated: 28 Feb 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Maffucci syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

[The Maffucci syndrome with axial bone lesions. A rare cause of low back pain].
 

Author(s): C Ribeiro, P Fernandes, F C Reis

Journal: Acta Med Port. 1998 Jun;11(6):559-62.

 

The authors describe the case of a twenty-nine-year-old female with the diagnosis of Maffucci's syndrome, since the age of five, with lower back and lower limb pain. The diagnosis was made of bone axial lesions, which are seldom found in this syndrome. Sarcomatous transformation was ...

Last Updated: 6 Nov 1998

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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