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29:
124:. 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.
99:
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. Disfigurations of the extremities are a result. Pathological fractures can arise in affected
115:
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 three disorders:
549:
534:
204:
370:
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Management entails careful examination and monitoring for malignant degenerations. Surgical interventions can correct or minimize deformities.
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81:). The tumors most commonly appear in the bones of the hands, feet, and limbs, causing bone deformities and short limbs.
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1038:
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1139:
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963:
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Faik A, Allali F, El
Hassani S, Hajjaj-Hassouni N (February 2006). "Maffucci's syndrome: a case report".
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who described it in 1881. Fewer than 200 cases of this syndrome have been reported.
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136:
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701:
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729:
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105:
74:
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Patients are normal at birth and the syndrome manifests during childhood.
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172:, isolated enchondromas are present without the presence of hemangiomas.
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205:
List of radiographic findings associated with cutaneous conditions
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569:
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Maffucci syndrome is most commonly caused by mutations in the
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77:develop within the bones (such tumors are known as
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21:
1034:Autosomal recessive multiple epiphyseal dysplasia
460:NORD (National Organization for Rare Disorders)
304:NORD (National Organization for Rare Disorders)
646:
36:Enchondromas are present in Maffucci syndrome
8:
919:
847:
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639:
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324:"Maffucci syndrome: MedlinePlus Genetics"
276:"Maffucci syndrome: MedlinePlus Genetics"
108:of the long bones and are common (26%).
84:It is named for the Italian pathologist
1135:Genetic disorders with OMIM but no gene
216:
738:Spondyloepiphyseal dysplasia congenita
432:"Ollier disease: MedlinePlus Genetics"
348:"Ollier disease: MedlinePlus Genetics"
1130:Vascular-related cutaneous conditions
715:Jansen's metaphyseal chondrodysplasia
7:
1062:Rhizomelic chondrodysplasia punctata
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226:
224:
222:
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748:Otospondylomegaepiphyseal dysplasia
720:Schmid metaphyseal chondrodysplasia
489:Gupta N, Kabra M (February 2007).
14:
1088:Short rib – polydactyly syndrome
1093:Majewski's polydactyly syndrome
127:It is associated with multiple
1:
867:Hereditary multiple exostoses
811:Polyostotic fibrous dysplasia
743:Multiple epiphyseal dysplasia
1100:Léri–Weill dyschondrosteosis
376:Dorland's Medical Dictionary
200:List of cutaneous conditions
1156:
1067:Conradi–Hünermann syndrome
692:Camurati–Engelmann disease
485:at Genetics Home Reference
233:Reference, Genetics Home.
1054:Chondrodysplasia punctata
1039:Atelosteogenesis, type II
402:10.1007/s10067-005-1101-1
120:, Maffucci syndrome, and
35:
26:
816:McCune–Albright syndrome
964:Thanatophoric dysplasia
239:Genetics Home Reference
933:Antley–Bixler syndrome
915:Growth factor receptor
662:Osteochondrodysplasias
164:Differential diagnosis
139:may also be apparent.
1125:Syndromes with tumors
1044:Diastrophic dysplasia
710:Metaphyseal dysplasia
129:cavernous hemangioma
1083:Fibrochondrogenesis
861:osteochondromatosis
799:Boomerang dysplasia
491:"Maffucci syndrome"
456:"Maffucci Syndrome"
371:"Maffucci syndrome"
300:"Maffucci Syndrome"
235:"Maffucci syndrome"
1001:Hypochondrogenesis
602:External resources
122:metachondromatosis
92:Signs and symptoms
69:in which multiple
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1111:
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957:Hypochondroplasia
903:Maffucci syndrome
826:
825:
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483:Malfucci syndrome
195:Njolstad syndrome
63:Maffucci syndrome
60:
59:
22:Maffucci syndrome
16:Medical condition
1147:
1014:sulfation defect
981:collagen disease
920:
892:enchondromatosis
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837:chondrodystrophy
832:Chondrodysplasia
806:Opsismodysplasia
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47:Medical genetics
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1022:Achondrogenesis
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989:Achondrogenesis
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785:Other/ungrouped
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771:Osteopoikilosis
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1140:Rare syndromes
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1076:Other dwarfism
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898:Ollier disease
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852:Osteochondroma
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670:Osteodysplasia
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111:The risk for
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79:enchondromas
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883:enchondroma
840:(including
113:sarcomatous
1119:Categories
702:Metaphysis
587:DiseasesDB
465:2022-11-18
441:2022-11-18
357:2022-11-18
333:2022-11-18
309:2022-11-18
285:2022-11-18
244:2020-09-04
211:References
176:Management
133:phlebolith
102:metaphyses
65:is a very
879:Chondroma
730:Epiphysis
684:Diaphysis
611:eMedicine
259:synd/1813
159:Diagnosis
106:diaphyses
75:cartilage
42:Specialty
842:dwarfism
616:derm/256
510:17351310
418:21114777
410:16234991
184:See also
1027:type 1B
1011:SLC26A2
581:D004687
994:type 2
978:COL2A1
570:166000
508:
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408:
155:gene.
49:
943:FGFR3
924:FGFR2
559:756.4
544:Q78.4
494:(PDF)
414:S2CID
143:Cause
793:FLNB
592:9212
576:MeSH
565:OMIM
554:9-CM
506:PMID
406:PMID
153:IDH2
149:IDH1
131:and
104:and
550:ICD
535:ICD
398:doi
373:at
262:at
168:In
151:or
73:of
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Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
