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Related Experiment Videos

Maffucci's syndrome: a case report.

Afaf Faik1, Fadoua Allali, Selma El Hassani

  • 1Rheumatology B Department, El Ayachi Hospital Rabat-Sale University Hospital, Sale, Morocco. faik_afaf@hotmail.com

Clinical Rheumatology
|October 20, 2005
PubMed
Summary

Maffucci's syndrome, a rare nonhereditary condition, involves enchondromatosis and hemangiomatosis. This case highlights severe bone deformities and cutaneous hemangiomas in a young woman, emphasizing the syndrome's significant skeletal impact.

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Area of Science:

  • Medical Genetics
  • Orthopedics
  • Dermatology

Background:

  • Maffucci's syndrome is a rare, congenital, nonhereditary disorder.
  • It is characterized by the simultaneous occurrence of enchondromatosis and hemangiomatosis.
  • The syndrome carries an elevated risk of malignant transformation.

Observation:

  • A 24-year-old woman presented with severe bone distortion since early childhood.
  • Clinical findings included shortened limbs and cutaneous hemangiomas on the legs.
  • Radiological imaging revealed widespread enchondromas and significant long bone abnormalities.

Findings:

  • Biopsy confirmed enchondroma in the metacarpal bone.
  • Histological analysis of skin lesions identified hemangioendothelioma.

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  • Diagnostic criteria for Maffucci's syndrome were met.

    • Implications:

    • This case underscores the significant skeletal manifestations of Maffucci's syndrome.
    • Early diagnosis and monitoring are crucial due to potential complications.
    • Further research into the pathogenesis and management of Maffucci's syndrome is warranted.