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.
 

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

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

[Maffucci syndrome: enchondromas to closely monitor].
 

Author(s): Mohamed Azouz, Moradh Elyaacoubi

Journal:

 

Last Updated: 18 Jul 2015

Go To URL
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

Go To URL
The Appearance of Maffucci Syndrome on 18F-FDG PET/CT.
 

Author(s): Sayf Al-Katib, Zaid Al-Faham, Paul Grant, Jane C Palka

Journal: J Nucl Med Technol. 2015 Jun;43(2):131-2.

 

Maffucci syndrome is a rare condition with multiple enchondromas and hemangiomas. Fewer than 200 cases have been reported in the United States. There is a high predilection for neoplastic changes, and PET/CT has an important role in detecting these changes.

Last Updated: 3 Jun 2015

Go To URL

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

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

Go To URL
[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

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.