WordNet

a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"

PrepTutorEJDIC

(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/07/31 22:31:46」(JST)

wiki en

Maffucci syndrome is a sporadic disease characterized by the presence of multiple enchondromas associated with multiple hemangiomas.^[1]^[2] Also lymphangiomas may be apparent.^{[citation needed]}

Signs and symptoms

Patients are normal at birth and the syndrome manifests during childhood and puberty. 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 afflicted. 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. Multiple enchondromas may present in 3 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. Metachondromatosis demonstrates autosomal-dominant transmission and presents with both multiple osteochondromas and enchondromas.

Management

Management entails careful examination and monitoring for malignant degenerations. Surgical interventions can correct or minimize deformities.

Differential diagnosis

In Ollier disease isolated enchondromas are present without the presence of hemangiomas.

Eponym

It is named for Angelo Maffucci.^[3]

References

^ "Maffucci syndrome" at Dorland's Medical Dictionary
^ Faik A, Allali F, El Hassani S, Hajjaj-Hassouni N (February 2006). "Maffucci's syndrome: a case report". Clin. Rheumatol. 25 (1): 88–91. doi:10.1007/s10067-005-1101-1. PMID 16234991.
^ synd/1813 at Who Named It?

External links

Gupta N, Kabra M (February 2007). "Maffucci syndrome" (PDF). Indian Pediatr 44 (2): 149–50. PMID 17351310.
Maffucci Syndrome - Information for the average person

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. 小児および思春期における良性骨腫瘍の概要 overview of benign bone tumors in children and adolescents
2. 軟骨肉腫 chondrosarcoma

English Journal

Hemangioma related with Maffucci syndrome: a case report.

Kondo T.AbstractABSTRACT: Introduction Maffucci syndrome is a rare clinical entity (approximately 200 cases have been reported in the medical literature) with combined occurrence of multiple enchondromas and vascular tumors. Case presentation The case of a 43-year-old Japanese man with multiple chondromas and hemangiomas (Maffucci syndrome) is reported. One of the hemangiomas was removed and examined pathologically. The morphological picture was an admixture of cavernous hemangioma and spindle cell hemangioma without cytological atypia or mitosis. Sheets of vacuolated endothelial cells were also observed. Conclusion A rare case of hemangioma associated with Maffucci syndrome, focusing on the pathologic nature of the submitted tissue is reported.
Journal of medical case reports.J Med Case Reports.2011 Jun 21;5(1):224. [Epub ahead of print]
ABSTRACT: Introduction Maffucci syndrome is a rare clinical entity (approximately 200 cases have been reported in the medical literature) with combined occurrence of multiple enchondromas and vascular tumors. Case presentation The case of a 43-year-old Japanese man with multiple chondromas and heman
PMID 21689466

Maffucci syndrome: A genome-wide analysis using high resolution single nucleotide polymorphism and expression arrays on four cases.

Pansuriya TC, Oosting J, Verdegaal SH, Flanagan AM, Sciot R, Kindblom LG, Hogendoorn PC, Szuhai K, Bovee JV.SourceDepartment of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
Genes, chromosomes & cancer.Genes Chromosomes Cancer.2011 May 16. doi: 10.1002/gcc.20889. [Epub ahead of print]
Ollier disease and Maffucci syndrome are rare, nonhereditary skeletal disorders characterized by the presence of multiple enchondromas with (Maffucci) or without (Ollier) co-existing multiple hemangiomas of soft tissue. Enchondromas can progress toward central chondrosarcomas. PTH1R mutations are fo
PMID 21584901

Japanese Journal

A Young Woman with Maffucci Syndrome

Amezyane Taoufik,Bassou Driss,Abouzahir Ali,Fatihi Jamal,Akhaddar Ali,Mahassin Fatima,Ghafir Driss,Ohayon Victor
Internal Medicine 49(1), 85-86, 2010
NAID 130000142267