Maffucci syndromeQ78.42

Author:Prof. Dr. med. Peter Altmeyer

All authors of this article

Last updated on: 15.05.2024

Dieser Artikel auf Deutsch

Synonym(s)

Chondrodysplasia Hemangioma Syndrome; Enchondromatosis type II; hemangiomatous dyschondroplasia; Kashch's syndrome; Kast's syndrome; Maffucci-Kast Syndrome; Maffucci's Syndromes; OMIM 166000

Requires free registration (medical professionals only)

Please login to access all articles, images, and functions.

Our content is available exclusively to medical professionals. If you have already registered, please login. If you haven't, you can register for free (medical professionals only).


Requires free registration (medical professionals only)

Please complete your registration to access all articles and images.

To gain access, you must complete your registration. You either haven't confirmed your e-mail address or we still need proof that you are a member of the medical profession.

Finish your registration now

HistoryThis section has been translated automatically.

Angelo Maffucci, 1881

DefinitionThis section has been translated automatically.

Maffucci syndrome (MS, OMIM 166000) is an extremely uncommon, non-hereditary, multisystemic disorder characterized by multiple enchondromas and vascular lesions, most of which are spindle cell hemangiomas.

EtiopathogenesisThis section has been translated automatically.

Unknown. There are vascular malformations associated with enchondromas and an increased risk of sarcoma. Post-zygotic mutations of the genes for isocitrate dehydrogenase(IDH1 or IDH2 gene) have been detected (Sun Y et al. 2022).

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 predominantly on the hands and feet (70-80%), less frequently on the long tubular bones (40-60%), ribs, pelvis and shoulder blades (20-30%), rarely on vertebral bodies, 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, short stature, often with asymmetrical shortening of the legs.

DiagnosisThis section has been translated automatically.

Clinical, radiological.

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.

  1. Holzmann H et al. (1994) Chondrodysplasia-hemangioma syndrome (Maffucci's syndrome) 20: 292-295
  2. Kaplan RP et al (1993) Maffucci's syndrome: two case reports with a literature review. J Am Acad Dermatol 29: 894-899
  3. Lewis RJ, Ketcham AS (1973) Maffucci's syndrome: functional and neoplastic significance. J Bone Jt Surg 55-A: 1465-1479
  4. Maffucci A (1881) Di un caso encendroma ed angioma multiple. Movimento medico-chirurgico (Napoli) 3: 399-412, 565-575
  5. Moore BA et al. (2003) Maffucci's syndrome and cartilaginous neoplasms of the trachea. Otolaryngol Head Neck Surg 128: 583-586

  6. Sun Y et al. (2022) Cell-free DNA from plasma as a promising alternative for detection of gene mutations in patients with Maffucci syndrome. Hereditas 59:4.

Authors

Last updated on: 15.05.2024

Author: Prof. Dr. med. Peter Altmeyer