Maffucci syndrome
Dernière mise à jour 18 Aug 2020
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Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterised 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.
Description
Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterised 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.
The signs and symptoms of Maffucci syndrome may be detectable at birth, although they generally do not become apparent until around the age of 5. Enchondromas develop near the ends of bones, where normal growth occurs, and they frequently stop forming after affected individuals stop growing in early adulthood. As a result of the bone deformities associated with Maffucci syndrome, people with this disorder generally have short stature and underdeveloped muscles.
Maffucci syndrome is distinguished from a similar disorder that involves enchondromas (Ollier disease) by the presence of red or purplish growths in the skin consisting of tangles of abnormal blood vessels (hemangiomas). In addition to hemangiomas, individuals with Maffucci syndrome occasionally also have lymphangiomas, which are masses made up of the thin tubes that carry lymph fluid (lymphatic vessels). These growths may appear anywhere on the body.
Although the enchondromas associated with Maffucci syndrome start out as benign, they may become cancerous (malignant). In particular, affected individuals may develop bone cancers called chondrosarcomas, especially in the skull. People with Maffucci syndrome also have an increased risk of other cancers, such as ovarian or liver cancer.
People with Maffucci syndrome usually have a normal lifespan, and intelligence is unaffected. The extent of their physical impairment depends on their individual skeletal deformities, but in most cases they have no major limitations in their activities.
Inheritance patterns
The source lists the following possible inheritance patterns: Not inherited. More than one pattern can apply in different cases.
Related genes
Other names
Chondrodysplasia with hemangioma
Chondroplasia angiomatosis
Dyschondroplasia and cavernous hemangioma
Enchondromatosis with hemangiomata
Hemangiomata with dyschondroplasia
Hemangiomatosis chondrodystrophica
Kast syndrome
Multiple angiomas and endochondromas
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Lectures complémentaires et références
- Maffucci syndrome; MedlinePlus, National Library of Medicine.
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- Wang YP, Di WJ, Qin SL, Yang S, Wang Z, Xu YF, Han PF. A rare presentation of Maffucci syndrome: A case report and literature review. Exp Ther Med. 2023 Jul 25;26(3):435. doi: 10.3892/etm.2023.12134. eCollection 2023 Sep.
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