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Abstract

Maffucci syndrome is an exceedingly rare congenital, non-familial mesodermal dysplasia consisting of multiple enchondromas and venous abnormalities like soft tissue hemangiomas or lymphangiomas. The lesions develop slowly and are seen on the phalanges and long bones, which eventually cause growth and developmental malformations. Along with the bone deformities, pathological fractures and loss of mobility are a common occurrence. Maffucci syndrome patients may develop secondary central chondrosarcomas and have a higher risk of developing malignant tumors like gliomas and mesenchymal ovarian tumors. The following case study presents one such case of Maffucci syndrome in a 61-year-old male, in whom it was an accidental finding. Since it is an extremely rare manifestation, the data and treatment modalities are quite limited. There is a need to create a database of Maffucci syndrome and explore its pathophysiology for early diagnosis, treatment and prevention of complications.


Maffucci syndrome is a congenital nonhereditary disease first defined by Carleton et al. (1942). He named it after an Italian pathologist, Angelo Maffuccia, who described the first affected patient in 1881.[1,2] With less than 300 cases reported worldwide & around 4 cases in India, it becomes an exceedingly rare disorder. The limited economic and scientific resources, along with a lack of awareness among medical professionals could be the cause of under-diagnosis.[3]


The patients usually present before the onset of puberty with multiple enchondromas, often located within the long bones and multiple hemangiomas primarily in the skin.


The enchondromas are one of the earliest signs of Maffucci syndrome. These cartilaginous tumors cause lytic lesions that distort the affected bones. They cause destruction of the bone matrix and often disproportionate growth, with 40% of patients affected on only one side of the body. It eventually leads to short stature, bowing of the arms and legs, pathological fractures and loss of mobility. An estimated 25-30% of enchondromas develop into chondrosarcomas. There is also an increased risk of malignant transformation of hemangiomas into hemangiosarcomas and hemangio-endotheliomas.[4,5]


Maffucci syndrome is an extremely rare disease with limited published literature. There are no definite guidelines on the diagnosis, pathogenesis and treatment methods for this disease.[3] This study aims to contribute to the worldwide database and provide a concise summary regarding the characteristics, etiology, differential diagnosis and possible treatment modalities.

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How to Cite
Sumedha S. Prabhudessai, Yash Caroicar, Amita Rohilla, & Ekta Caroicar. (2026). Maffucci Syndrome - A Rare Presentation of Multiple Enchondromas and Hemangiomas in a 61-Year-Old Male. Journal of Evolution of Medical and Dental Sciences, 15(1), 28–33. https://doi.org/10.14260/jemds.v15i1.819
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References

  1. Ciranni R, Giuffra V, Marinozzi S, et al. Angelo Maria Maffucci (1845-1903) e gli inizi dell' anatomia patologica a Pisa [Angelo Maria Maffucci (1845-1903) and the beginning of pathological anatomy in Pisa]. Med Secoli 2004;16(1):31-41.
  2. Carleton A, Elkington JS, Greenfield JG, et al. Maffucci's syndrome (dyschondroplasia with haemangeiomata). QJM: An International Journal of Medicine 1942;11(4):203-28.
  3. Wang YP, Di WJ, Qin SL, et al. A rare presentation of Maffucci syndrome: a case report and literature review. Exp Ther Med 2023;26(3):435.
  4. Campbell SJ, Nguyen NV. Maffucci syndrome. Medscape. Last updated: 28 March 2022 Accessed: 9 November 2024 https://emedicine.medscape.com/article/1111804-overview
  5. Mulliken JB. Maffucci Syndrome. NORD (National Organisation of Rare Diseases) Last updated: 10 October 2023 Accessed: 9 November 2024 https://rarediseases.org/rare-diseases/maffucci-syndrome
  6. Molenaar RJ, Maciejewski JP, Wilmink JW, et al. Wild-type and mutated IDH1/2 enzymes and therapy responses. Oncogene 2018;37(15):1949-60.
  7. Jermann M, Eid K, Pfammatter T, et al. Maffucci's syndrome. Circulation 2001;104(14):1693.
  8. Khan MT, Arooj S, Mukhtar MU, et al. Maffucci syndrome: case report and review of diagnostic signs of the rare disease. Radiol Case Rep 2022;17(10):3674-7.
  9. McGarry ME. Long term oncologic surveillance in Maffucci syndrome: a case report. Journal of Oncological Sciences 2017;3(3):140-4.
  10. Amary MF, Damato S, Halai D, et al. Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. Nature Genetics 2011;43(12):1262-5.
  11. Cheng P, Chen K, Zhang S, et al. IDH1 R132C and ERC2 L309I mutations contribute to the development of Maffucci’s syndrome. Front Endocrinol 2021;12:763349.
  12. Patwekar SL, Khatu SS, Shah NG, et al. Maffucci’s syndrome: a rare case report with unusual location. Medical Journal of Dr. D. Y. Patil Vidyapeeth 2019;12(1):65-8.
  13. Chua SH, Frez ML. Maffucci syndrome in an eight-year-old girl. Indian J Dermatol Venereol Leprol 2015;81(4):412-4.
  14. Ours C. Proteus syndrome. Orphanet- rare diseases. Last updated: May 2024 Accessed: 4 January 2025. https://www.orpha.net/en/disease/detail/744#menu
  15. Sun Y, Fan X, Rao Y, et al. Cell-free DNA from plasma as a promising alternative for detection of gene mutations in patients with Maffucci syndrome. Hereditas 2022;159(1):4.
  16. Mazingi D, Mbanje C, Jakanani G, et al. Maffucci’s syndrome in association with giant tubular adenoma of the breast: Case report and literature review. International Journal of Surgery Case Reports 2019;63:147–52.