Maffucci syndromeQ78.42
Synonym(s)
Chondrodysplasia Hemangioma Syndrome; Enchondromatosis type II; hemangiomatous dyschondroplasia; Kashch's syndrome; Kast's syndrome; Maffucci-Kast Syndrome; Maffucci's Syndromes; OMIM 166000
HistoryThis section has been translated automatically.
Angelo Maffucci, 1881
DefinitionThis section has been translated automatically.
Constitutional, non-hereditary mesodermal dysplasia with multiple cavernous hemangiomas of the skin and progressive, asymmetrical bone chondromatosis, especially in the hemangioma region.
EtiopathogenesisThis section has been translated automatically.
Unknown. There are vascular malformations in association with enchondromas and increased risk of sarcoma. Probably there is a somatic mosaic with postzygotic mutations of the genes for isocitrate dehydrogenase (IDH1 or IDH2)
ManifestationThis section has been translated automatically.
> 75% of cases manifest themselves before puberty, 25% already in the first year of life.
Clinical featuresThis section has been translated automatically.
Multiple enchondromas mainly on hands and feet (70-80%), less frequently on the long tubular bones (40-60%), ribs, pelvis and shoulder blades (20-30%), rarely on vertebrae, skull, clavicles and sternum (2-10%). Multiple capillary or cavernous hemangiomas of the skin and internal organs. Secondary deformation and shortening of the affected skeletal parts, dwarfism, often with asymmetrical leg shortening.
DiagnosisThis section has been translated automatically.
Radiology.
Differential diagnosisThis section has been translated automatically.
If other benign tumours and tissue hyperplasia are present at the same time, a Proteus syndrome should be considered.
Complication(s)This section has been translated automatically.
Malignant degeneration of tumors in about 23% of published patients (chondrosarcomas, hemangiosarcomas, lymphangiosarcomas, fibrosarcomas, gliomas, etc.).
TherapyThis section has been translated automatically.
The focus is on monitoring patients for the development of sarcomas, especially chondrosarcomas (30%), but also angiosarcomas, fibrosarcomas and osteosarcomas. Sarcomatically altered tissue is removed surgically. Correction of bone deformities and fractures by the orthopaedist. Monitoring and treatment of hemangiomas by the dermatologist. The disease usually comes to a halt in the second decade of life.
Progression/forecastThis section has been translated automatically.
In 20% inclination to develop malignant tumours; inclination to bone fractures, see also Ollier's syndrome.
LiteratureThis section has been translated automatically.
- Holzmann H et al (1994) Chondrodysplasia-hemangioma syndrome (Maffucci syndrome) 20: 292-295
- Kaplan RP et al (1993) Maffucci's syndrome: two case reports with a literature review. J Am Acad Dermatol 29: 894-899
- Lewis RJ, Ketcham AS (1973) Maffucci's Syndrome: functional and neoplastic significance. J Bone Jt Surg 55-A: 1465-1479
- Maffucci A (1881) Di un caso encendroma ed angioma multiple. Movimento medico-chirurgico (Naples) 3: 399-412, 565-575
- Moore BA et al (2003) Maffucci's syndrome and cartilaginous neoplasms of the trachea. Otolaryngol Head Neck Surg 128: 583-586