Monomelic Maffucci syndrome

Verma, Gopalkrishna G; Jain, Vijay Kumar; Iyengar, Karthikeyan P

doi:10.1136/bcr-2020-239619

Cited by 1 publication

(1 citation statement)

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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%