Maffucci syndrome Q78.42

Angelo Maffucci, 1881

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.

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).

> 75% of cases manifest themselves before puberty, 25% already in the first year of life.

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.

Clinical, radiological.

If other benign tumours and tissue hyperplasia are present at the same time, a Proteus syndrome should be considered.

Malignant degeneration of tumors in about 23% of published patients (chondrosarcomas, hemangiosarcomas, lymphangiosarcomas, fibrosarcomas, gliomas, etc.).

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.

In 20% inclination to develop malignant tumours; inclination to bone fractures, see also Ollier's syndrome.

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.