Maffucci syndrome and soft tissue sarcoma: a case report
2009

Maffucci Syndrome and Soft Tissue Sarcoma: A Case Report

Sample size: 1 publication Evidence: low

Author Information

Author(s): Lissa Fernando, César Toniazzi, Juliana Sonego, Geórgia Nunes Antunes, Franciani de Oliveira Basso, Janara Furtado

Primary Institution: Hospital São José, Criciúma, Brazil

Hypothesis

What are the implications of Maffucci syndrome in the development of soft tissue sarcoma?

Conclusion

Treatment should focus on symptom relief and early detection of malignancies, with biopsies for any growing or painful lesions.

Supporting Evidence

  • Maffucci syndrome is characterized by multiple enchondromas and hemangiomas.
  • The risk of malignant transformation in Maffucci syndrome is about 25%.
  • The patient had a tumor in the right thigh diagnosed as retiform hemangioendothelioma.

Takeaway

Maffucci syndrome can lead to tumors, and if someone has painful lumps, they should see a doctor to check for cancer.

Methodology

The case involved a 29-year-old woman diagnosed with Maffucci syndrome and soft tissue sarcoma, with histopathological analysis and imaging used for diagnosis and staging.

Limitations

The study is based on a single case report, limiting generalizability.

Participant Demographics

29-year-old white woman

Digital Object Identifier (DOI)

10.1186/1477-7800-6-2

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