Maffucci SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Maffucci Syndrome
Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they may also occur in the skull, ribs, and bones of the spine (vertebrae). Enchondromas may result in severe bone deformities, shortening of the limbs, and fractures.
In most people with Maffucci syndrome, the disorder is caused by mutations in the IDH1 or IDH2 gene. These genes provide instructions for making enzymes called isocitrate dehydrogenase 1 and isocitrate dehydrogenase 2, respectively. These enzymes convert a compound called isocitrate to another compound called 2-ketoglutarate. This reaction also produces a molecule called NADPH, which is necessary for many cellular processes. IDH1 or IDH2 gene mutations cause the enzyme produced from the respective gene to take on a new, abnormal function. Although these mutations have been found in some cells of enchondromas and hemangiomas in people with Maffucci syndrome, the relationship between the mutations and the signs and symptoms of the disorder is not well understood.
Maffucci syndrome is very rare. Since it was first described in 1881, fewer than 200 cases have been reported worldwide.
Maffucci syndrome is not inherited. The mutations that cause this disorder are somatic, which means they occur during a person's lifetime. A somatic mutation occurs in a single cell. As that cell continues to grow and divide, the cells derived from it also have the same mutation. In Maffucci syndrome, the mutation is thought to occur in a cell during early development before birth; cells that arise from that abnormal cell have the mutation, while the body's other cells do not. This situation is called mosaicism.
Emmanuel Mandonnet practices in Paris, France. Mr. Mandonnet is rated as an Elite expert by MediFind in the treatment of Maffucci Syndrome. His top areas of expertise are Maffucci Syndrome, Ollier Disease, Glioma, Gliomatosis Cerebri, and Awake Craniotomy.
Johns Hopkins Outpatient Center
Adam Levin, MD, joined the Johns Hopkins Department of Orthopaedic Surgery as an assistant professor in orthopaedic oncology. Dr. Levin comes to Johns Hopkins after working as an orthopaedic oncologist at the North Shore/LIJ Health System in New York. He completed his residency in orthopaedic surgery at Long Island Jewish Medical Center, and a fellowship in orthopaedic oncology at the Memorial Sloan-Kettering Cancer Center. Dr. Levin offers care and consultations for adults and children with bone and soft tissue tumors of the pelvis and extremities. He has extensive experience in performing limb-sparing and complex extremity reconstruction surgeries. Dr. Levin has a special interest in surgical palliation and biologic reconstruction. Dr. Levin is a member of the American Academy of Orthopaedic Surgeons and the Musculoskeletal Tumor Society. Dr. Levin is rated as a Distinguished provider by MediFind in the treatment of Maffucci Syndrome. His top areas of expertise are Adult Soft Tissue Sarcoma, Osteosarcoma, Ollier Disease, Hip Replacement, and Osteotomy.
Duke Cancer Center
I became an orthopaedic surgeon because I enjoy the mechanical nature of how joints, bones and muscles work together. I chose to focus on treating children because it provides me with an opportunity to make a difference in their health now, and for the rest of their lives. As I’ve entered the later stages of my career, I have had the privilege of seeing patients who I treated come back to me as adults seeking treatment for their own children. I find it very fulfilling to see how the treatments I gave the parent helped them become a healthy, fully functional adult. I believe that being a good doctor means treating the “whole” patient, rather than focusing only on individual parts of the body. I enjoy working with my patients to make sure they are getting all the treatments they need to get and stay well. In my spare time I enjoy photography, hiking and backpacking. Dr. Alman is rated as a Distinguished provider by MediFind in the treatment of Maffucci Syndrome. His top areas of expertise are Desmoid Tumor, Chondrosarcoma, Undifferentiated Pleomorphic Sarcoma, Maffucci Syndrome, and Hip Replacement.
Background: Ollier disease (OD) and Maffucci syndrome (MS) are rare disorders that increase the risk of cancers in cartilage tissue. These tumors can lead to severe skeletal deformities beginning in childhood. People with OD or MS are also at an increased risk of blood vessel disorders and specific cancers. Researchers want to learn more about what causes these disorders.
Summary: REM is a retrospective and prospective registry, finalized to care and research. It is articulated in main sections - strongly related and mutually dependent on each other - corresponding to different data domains: personal information, clinical data, genetic data, genealogical data, surgeries, etc.. This approach has been individuated in order to corroborate and integrate data from different reso...
Published Date: February 01, 2016
Published By: National Institutes of Health