A rare presentation of Maffucci syndrome: A case report and literature review

Wang,Yue-Peng; Di,Wen-Jia; Qin,Shi-Lei; Yang,Su; Wang,Zhen; Xu,Yun-Feng; Han,Peng-Fei

doi:10.3892/etm.2023.12134

A rare presentation of Maffucci syndrome: A case report and literature review

Authors:
- Yue-Peng Wang
- Wen-Jia Di
- Shi-Lei Qin
- Su Yang
- Zhen Wang
- Yun-Feng Xu
- Peng-Fei Han
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Affiliations: Graduate School, Changzhi Medical College, Changzhi, Shanxi 046000, P.R. China, Graduate School, Baotou Medical College of Inner Mongolia University of Science and Technology, Baotou, Inner Mongolia 014040, P.R. China, Department of Orthopaedics, Changzhi Yunfeng Hospital, Changzhi, Shanxi 046000, P.R. China, Department of Orthopaedics, Heping Hospital Affiliated to Changzhi Medical College, Changzhi, Shanxi 046000, P.R. China
Published online on: July 25, 2023 https://doi.org/10.3892/etm.2023.12134
Article Number: 435
Copyright: © Wang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Maffucci syndrome is an extremely rare disease which can manifest symptoms as early as childhood. It is estimated that there have been <300 cases reported globally; however, this number is likely to be an underestimate. Maffucci syndrome is characterized by multiple enchondromas and soft tissue hemangiomas, which can cause growth and developmental malformations. In addition to bone deformities, pathological fractures and a loss of mobility, patients with Maffucci syndrome may develop secondary central chondrosarcoma and have a higher risk of developing non‑skeletal malignant tumors, such as gliomas and mesenchymal ovarian tumors. The present study provides information for clinicians about this disease through the use of imaging, physical examinations, clinical manifestations and the treatment strategy used. There is need to summarize the existing cases of this disease around the world and produce an effective framework for the diagnosis, treatment and prevention of Maffucci syndrome, in order to better understand this disease. The present study reports on a 15‑year‑old male diagnosed with Maffucci syndrome. . Due to the risk of malignant tumor development in the absence of effective treatment, regular and careful observation through monitoring of tumor markers and imaging studies is important for patients with Maffucci syndrome. As cases of this disease are rare and case data is limited, it is difficult to create a clear treatment plan. There is an urgent need to establish a case database of Maffucci syndrome patients and explore its pathogenesis for early diagnosis, treatment and prevention of disease.

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