Alcocer-Maldonado JL, Güemes-Sandoval E, Domínguez-Carrillo LG, Mora-Constantino J, Domínguez-Gasca LG

Language: Spanish
References: 9
Page: 211-214
PDF size: 153.97 Kb.

ABSTRACT

Maffucci syndrome, first described in 1881 by the Italian pathologist Angelo Maffucci, is listed as: nonhereditary mesodermal dysplasia characterized by enchondromatosis associated with soft tissue hemangiomas. Until 2013 there are less than 200 cases in the literature; affects both genders, without ethnic or geographic predilection. His appearance occurs between the first and fifth year of life; clinical symptoms are present at birth or during the first year in 25% of cases. Presents multiple enchondromas frequent in long bones and phalanges; manifested as painless swelling of the fingers or pathological fracture and lead to significant deformity. Hemangiomas appear as subcutaneous dark blue nodules protruding in the distal extremities; vascular and skeletal injuries are asymmetric; 30-40% of enchondromas transform into chondrosarcomas. The syndrome may be associated with other tumors; diagnosis is based on clinical and radiographic findings. Treatment is aimed at relieving symptoms and early detection of malignant tumors. We present the case of a female patient with the syndrome described, who was followed for 25 years.

REFERENCES

1. Maffucci A. Di un caso di enchondroma ed angioma múltiplo. Movimiento Medico-Shirurgico. 1881; XIII: 339.

2. Pansuriya TC, Kroon HM, Bovée JV. Enchondromatosis: insights on the different subtypes. Int J Clin Exp Pathol. 2010; 26: 557-569.

3. Ahmed AR, Tan TS, Unni KK, Collins MS, Wenger DE, Sim FH. Secondary chondrosarcoma in osteochondroma: report of 107 patients. Clin Orthop Relat Res. 2003; 1: 193-206.

4. Auyeung J, Mohanty K, Tayton K. Maffucci lymphangioma syndrome: an unusual variant of Ollier’s disease, a case report and a review of the literature. J Pediatr Orthop B. 2003; 12: 147-150.

5. Zwenneke F, Ginai A, Oosterhuis J. Maffucci syndrome: radiologic and pathologic findings. Best cases from the AFIP. RadioGraphics. 2001; 21: 1311-1316.

6. Shepherd V, Godbolt A, Casey T. Maffucci’s syndrome with extensive gastrointestinal involvement. Australas J Dermatol. 2005; 46: 33-37.

7. Mendenhall WM, Lewis SB, Villaret DB, Mendenhall N. Cranial base chondrosarcoma. Cancer Therapy. 2004; 2: 519-524.

8. Amary MF, Damato S, Halai D, Eskandarpour M, Berisha F, Bonar F et al. Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. Nature Genet. 2011; 43: 1262-1265.

9. Verdegall SH, Bovée JE, Pansuriya TC, Grimer RJ, Ozger H, Jutte PC et al. Incidence, predictive factors, and prognosis of chondrosarcoma in patients with Ollier disease and Maffucci’s syndrome: an international multicenter study of 161 patients. Oncologist. 2011; 16: 1771-1779.