Maffucci syndrome
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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.
Descrizione
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.
Modelli di ereditarietà
The source lists the following possible inheritance patterns: Not inherited. More than one pattern can apply in different cases.
Related genes
Altri nomi
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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Ulteriori letture e riferimenti
- Maffucci syndrome; MedlinePlus, National Library of Medicine.
- Amary MF, Damato S, Halai D, Eskandarpour M, Berisha F, Bonar F, McCarthy S, Fantin VR, Straley KS, Lobo S, Aston W, Green CL, Gale RE, Tirabosco R, Futreal A, Campbell P, Presneau N, Flanagan AM. Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. Nat Genet. 2011 Nov 6;43(12):1262-5. doi: 10.1038/ng.994.
- Amyere M, Dompmartin A, Wouters V, Enjolras O, Kaitila I, Docquier PL, Godfraind C, Mulliken JB, Boon LM, Vikkula M. Common somatic alterations identified in maffucci syndrome by molecular karyotyping. Mol Syndromol. 2014 Dec;5(6):259-67. doi: 10.1159/000365898. Epub 2014 Aug 26.
- El Abiad JM, Robbins SM, Cohen B, Levin AS, Valle DL, Morris CD, de Macena Sobreira NL. Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature. Am J Med Genet A. 2020 May;182(5):1093-1103. doi: 10.1002/ajmg.a.61530. Epub 2020 Mar 7.
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- Nejo T, Tanaka S, Ikemura M, Nomura M, Takayanagi S, Shin M, Ushiku T, Shibahara J, Saito N, Mukasa A. Maffucci syndrome complicated by three different central nervous system tumors sharing an IDH1 R132C mutation: case report. J Neurosurg. 2018 Dec 21;131(6):1829-1834. doi: 10.3171/2018.6.JNS18729. Print 2019 Dec 1.
- Pansuriya TC, Kroon HM, Bovee JV. Enchondromatosis: insights on the different subtypes. Int J Clin Exp Pathol. 2010 Jun 26;3(6):557-69.
- Pansuriya TC, van Eijk R, d'Adamo P, van Ruler MA, Kuijjer ML, Oosting J, Cleton-Jansen AM, van Oosterwijk JG, Verbeke SL, Meijer D, van Wezel T, Nord KH, Sangiorgi L, Toker B, Liegl-Atzwanger B, San-Julian M, Sciot R, Limaye N, Kindblom LG, Daugaard S, Godfraind C, Boon LM, Vikkula M, Kurek KC, Szuhai K, French PJ, Bovee JV. Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. Nat Genet. 2011 Nov 6;43(12):1256-61. doi: 10.1038/ng.1004.
- Ranger A, Szymczak A. Do intracranial neoplasms differ in Ollier disease and maffucci syndrome? An in-depth analysis of the literature. Neurosurgery. 2009 Dec;65(6):1106-13; discussion 1113-5. doi: 10.1227/01.NEU.0000356984.92242.D5.
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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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