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 12 free, full-text research articles on human participants. First 3 results:

Somatic IDH1 mutation in a pituitary adenoma of a patient with Maffucci syndrome.
 

Author(s): Shuyu Hao, Christopher S Hong, Jie Feng, Chunzhang Yang, Prashant Chittiboina, Junting Zhang, Zhengping Zhuang

Journal: J. Neurosurg.. 2016 Jun;124(6):1562-7.

 

Maffucci syndrome is a rare disease characterized by multiple enchondromas and soft-tissue hemangiomas. Additionally, neuroendocrine tumors including pituitary adenomas have been described in these patients. The underlying genetic etiology lies in somatic mosaicism of mutations in ...

Last Updated: 1 Jun 2016

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[Maffucci syndrome: enchondromas to closely monitor].
 

Author(s): Mohamed Azouz, Moradh Elyaacoubi

Journal:

 

Last Updated: 18 Jul 2015

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Maffucci syndrome in an eight-year-old girl.
 

Author(s): Sharlene Helene H Chua, Ma Lorna F Frez

Journal: Indian J Dermatol Venereol Leprol. ;81(4):412-4.

 

Last Updated: 6 Jul 2015

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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 4 free, full-text review articles on human participants. First 3 results:

Maffucci syndrome and neoplasms: a case report and review of the literature.
 

Author(s): Olga Prokopchuk, Stephanie Andres, Karen Becker, Konstantin Holzapfel, Daniel Hartmann, Helmut Friess

Journal:

 

Maffucci syndrome is characterized by the sporadic occurrence of multiple enchondromas together with multiple hemangiomas. Patients with Maffucci syndrome are at increased risk of developing different kinds of malignant tumors.

Last Updated: 27 Feb 2016

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Maffucci Syndrome. An Interesting Case and a Review of the Literature.
 

Author(s): Calvin Ngai, David Y Ding, Timothy B Rapp

Journal: Bull Hosp Jt Dis (2013). 2015 Dec;73(4):282-5.

 

Maffucci syndrome, a rare sporadic form of enchondromatosis, is characterized by hemangiomas and multiple enchondromas, benign cartilaginous tumors that arise near growth plates. Previous studies demonstrate that individuals diagnosed with Maffucci syndrome have approximately 100% ...

Last Updated: 3 Dec 2015

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Chondrosarcoma of the nasal cavity in a patient with Maffucci syndrome: case report and review of the literature.
 

Author(s): Teresa B Steinbichler, Florian Kral, Susanne Reinold, Herbert Riechelmann

Journal:

 

Maffucci syndrome is a rare, congenital, non-hereditary mesodermal dysplasia, manifested by multiple enchondromas and hemangiomas. Malignant transformation of these lesions is seen in up to 40% of the cases.

Last Updated: 25 Dec 2014

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.