{{Infobox medical condition (new) | name = Maffucci syndrome | synonyms = | image = Enchondroma - very high mag.jpg | caption = Enchondromas are present in Maffucci syndrome | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }} '''Maffucci syndrome''' is a very rare disorder in which multiple benign tumors of cartilage develop within the bones (such tumors are known as enchondromas).<ref name=":0">{{Cite web|last=Reference|first=Genetics Home|title=Maffucci syndrome|url=https://medlineplus.gov/genetics/condition/maffucci-syndrome/|access-date=2020-09-04|website=Genetics Home Reference|language=en}}</ref> The tumors most commonly appear in the bones of the hands, feet, and limbs, causing bone deformities and short limbs.<ref name=":0" />
It is named for the Italian pathologist Angelo Maffucci who described it in 1881.<ref>{{WhoNamedIt|synd|1813}}</ref> Fewer than 200 cases of this syndrome have been reported.<ref name=":0" />
==Signs and symptoms== Patients are normal at birth and the syndrome manifests during childhood.<ref>{{Cite web |title=Maffucci syndrome: MedlinePlus Genetics |url=https://medlineplus.gov/genetics/condition/maffucci-syndrome/ |access-date=2022-11-18 |website=medlineplus.gov |language=en}}</ref>
The enchondromas affect the extremities and their distribution is asymmetrical. The most common sites of enchondromas are the metacarpal bones and phalanges of the hands. The feet are less commonly affected.<ref>{{Cite web |title=Maffucci Syndrome |url=https://rarediseases.org/rare-diseases/maffucci-syndrome/ |access-date=2022-11-18 |website=NORD (National Organization for Rare Disorders) |language=en-US}}</ref> Disfigurations of the extremities are a result. Pathological fractures can arise in affected metaphyses and diaphyses of the long bones and are common (26%).
The risk for sarcomatous degeneration of enchondromas, hemangiomas, or lymphangiomas is 15–30% in the setting of Maffucci syndrome. Maffucci syndrome is associated with a higher risk of CNS, pancreatic, and ovarian malignancies.<ref>{{Cite web |title=Maffucci syndrome: MedlinePlus Genetics |url=https://medlineplus.gov/genetics/condition/maffucci-syndrome/ |access-date=2022-11-18 |website=medlineplus.gov |language=en}}</ref> Multiple enchondromas may present in three disorders: Ollier disease, Maffucci syndrome, and metachondromatosis. It is important to make the distinction between these diseases, particularly Ollier disease and Maffucci syndrome. Ollier disease is more common than Maffucci syndrome, and presents with multiple enchondromas often in a unilateral distribution. However, hemangiomas and lymphangiomas are not seen in Ollier disease.<ref>{{Cite web |title=Ollier disease: MedlinePlus Genetics |url=https://medlineplus.gov/genetics/condition/ollier-disease/ |access-date=2022-11-18 |website=medlineplus.gov |language=en}}</ref> Metachondromatosis demonstrates autosomal-dominant transmission and presents with both multiple osteochondromas and enchondromas.{{citation needed|date=May 2022}}
It is associated with multiple cavernous hemangioma and phlebolith.<ref>{{DorlandsDict|eight/000104428|Maffucci syndrome}}</ref><ref name="pmid16234991">{{cite journal|vauthors=Faik A, Allali F, El Hassani S, Hajjaj-Hassouni N|date=February 2006|title=Maffucci's syndrome: a case report|journal=Clin. Rheumatol.|volume=25|issue=1|pages=88–91|doi=10.1007/s10067-005-1101-1|pmid=16234991|s2cid=21114777 }}</ref> Lymphangiomas may also be apparent.<ref name=":0" />
==Cause== Maffucci syndrome is most commonly caused by mutations in the IDH1 or IDH2 gene.<ref name=":0" />
==Diagnosis== ===Differential diagnosis=== In Ollier's disease, isolated enchondromas are present without the presence of hemangiomas.<ref>{{Cite web |title=Ollier disease: MedlinePlus Genetics |url=https://medlineplus.gov/genetics/condition/ollier-disease/ |access-date=2022-11-18 |website=medlineplus.gov |language=en}}</ref>
==Management== Management entails careful examination and monitoring for malignant degenerations. Surgical interventions can correct or minimize deformities.<ref>{{Cite web |title=Maffucci Syndrome |url=https://rarediseases.org/rare-diseases/maffucci-syndrome/ |access-date=2022-11-18 |website=NORD (National Organization for Rare Disorders) |language=en-US}}</ref>
== See also == * Ollier disease * Njolstad syndrome * List of cutaneous conditions * List of radiographic findings associated with cutaneous conditions
==References== {{reflist}}
== External links == * [https://medlineplus.gov/genetics/condition/maffucci-syndrome/ Malfucci syndrome] at Genetics Home Reference * {{cite journal |vauthors=Gupta N, Kabra M |title=Maffucci syndrome |journal=Indian Pediatr |volume=44 |issue=2 |pages=149–50 |date=February 2007 |pmid=17351310 |url=http://www.indianpediatrics.net/feb2007/149.pdf}} {{Medical resources | DiseasesDB = 9212 | ICD10 = {{ICD10|Q|78|4|q|65}} | ICD9 = {{ICD9|756.4}} | ICDO = | OMIM = 166000 | MedlinePlus = | eMedicineSubj = derm | eMedicineTopic = 256 | MeshID = D004687 }}
{{Osteochondrodysplasia}}
Category:Syndromes with tumors Category:Vascular-related cutaneous conditions Category:Genetic disorders with OMIM but no gene Category:Rare syndromes