Maffucci syndrome complicated by giant chondrosarcoma in the left ankle with an IDH1 R132C mutation: a case report

Lv, Haiyan; Jiang, Hantao; Zhang, Minge; Luo, Huarong; Hong, Zhenghua; Yang, Hai; Xu, Weifeng; Shen, Bo; Zhang, Wei; Qiu, Hao; Zhu, Ren-Min

doi:10.1186/s12957-022-02686-z

Cited by 2 publications

(1 citation statement)

References 37 publications

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“…In multiple enchondromas, it is possible to see spots of calcification in the transparent area, sometimes radial dense stripes, and often long tubular bone shortening. Small hemangiomas are difficult to observe through imaging studies, as they may only exhibit increased local soft tissue density on X-ray films, while larger multiple hemangiomas exhibit irregular thickening or nodular protrusions of soft tissue, and there are often venous stones of different sizes present, which may suggest Maffucci syndrome ( 14 , 15 ). In addition, it is possible to locally remove an isolated mass for pathological analysis.…”

Section: Discussionmentioning

confidence: 99%

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

Wang

Qin

et al. 2023

Exp Ther Med

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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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Section: Discussionmentioning

confidence: 99%

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

Wang

Qin

et al. 2023

Exp Ther Med

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Disastrous evolution of ollier disease: a rare case report

Fadili,

El Khaymy,

Bouzid

et al. 2023

Annals of Medicine &Amp; Surgery

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Introduction: Ollier disease is a rare genetic disorder characterized by the development of multiple enchondromas. The clinical manifestations of the disease vary widely, but patients often present with bone deformities and an increased risk of developing chondrosarcoma. Here, the authors present a case report of a 25-year-old male patient with a devastating and historic evolution of Ollier disease. Case presentation: At the age of 10, the patient developed a sub-centimeter mass in the first phalanx of the left middle finger, which subsequently grew in size. A biopsy was performed at the age of 14, which confirmed the diagnosis of chondroma. At the age of 14, the patient developed multiple large masses on the left hand, resulting in the amputation of his left hand. At 25 years old, the patient developed new masses in his contralateral hand and left foot. Discussion: Ollier disease is caused by somatic mutations in the PTH/PTHrP receptor gene, leading to the formation of multiple enchondromas. Patients with Ollier disease are at an increased risk of developing chondrosarcoma, which can be life-threatening. The diagnosis of Ollier disease is usually made based on clinical and radiographic findings, and genetic testing can confirm the diagnosis. Treatment is typically focused on managing the symptoms and preventing the development of chondrosarcoma. Conclusion: The authors presented a case report of a patient with a devastating and historic evolution of Ollier disease. This case highlights the importance of early diagnosis and management of this disease to prevent the development of chondrosarcoma and minimize the risk of complications. Further research is needed to better understand the underlying mechanisms of the disease and develop effective treatments.

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Maffucci syndrome complicated by giant chondrosarcoma in the left ankle with an IDH1 R132C mutation: a case report

Cited by 2 publications

References 37 publications

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

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

Disastrous evolution of ollier disease: a rare case report

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