eMedicine Specialties > Dermatology > Pediatric Diseases

Maffucci Syndrome: Differential Diagnoses & Workup

Author: Raymond T Kuwahara, MD, Dermatologist, Private Practice
Coauthor(s): Ron Rasberry, MD, Chief of Dermatology, Veterans Medical Center at Memphis; Associate Professor, Department of Dermatology, University of Tennessee at Memphis
Contributor Information and Disclosures

Updated: Nov 12, 2008

Differential Diagnoses

Kaposi Sarcoma
Klippel-Trenaunay-Weber Syndrome
Proteus Syndrome

Other Problems to Be Considered

Dyschondrodysplasia with hemangiomas
Enchondromatosis with multiple cavernous hemangiomas
Gorham syndrome
Multiple angiomas and endochondromas
Ollier disease

Workup

Laboratory Studies

  • No laboratory studies are required for Maffucci syndrome.

Imaging Studies

  • Radiologic study
    • The lead physician must conduct regular physical examinations and monitor for any changes that may suggest the development of chondrosarcomas, the most common neoplasm in this syndrome.
    • Radiologic evaluation of suspicious areas should be conducted. Evidence of malignant transformation includes cortical destruction, endosteal cortical erosion, and zones of lucency within a previously mineralized area.
    • A biopsy should then be performed on suspicious radiologic areas. Needle biopsy should provide a diagnosis.
    • CT and/or MRI can help in the evaluation of the lesion and its surrounding soft tissue.
    • Also see the eMedicine Radiology article Enchondroma and Enchondromatosis.

Procedures

  • Bone biopsy may be needed if the enchondroma is undergoing any changes.
    • As discussed earlier, radiography is a good screening tool, as are regular physical examinations.
    • To confirm the diagnosis, a biopsy should be performed on areas that appear suspicious with CT, MRI, or radiography.

Histologic Findings

Chondrosarcomas, the most common malignant neoplasm associated with Maffucci syndrome, are diagnosed by poorly differentiated pleomorphic chondrocytes.1,2

More on Maffucci Syndrome

Overview: Maffucci Syndrome
Differential Diagnoses & Workup: Maffucci Syndrome
Treatment & Medication: Maffucci Syndrome
Follow-up: Maffucci Syndrome
Multimedia: Maffucci Syndrome
References
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References

  1. Albregts AE, Rapini RP. Malignancy in Maffucci's syndrome. Dermatol Clin. Jan 1995;13(1):73-8. [Medline].

  2. Kaplan RP, Wang JT, Amron DM, Kaplan L. Maffucci's syndrome: two case reports with a literature review. J Am Acad Dermatol. Nov 1993;29(5 Pt 2):894-9. [Medline].

  3. Faik A, Allali F, El Hassani S, Hajjaj-Hassouni N. Maffucci's syndrome: a case report. Clin Rheumatol. Feb 2006;25(1):88-91. [Medline].

  4. Spitz JL. Maffucci syndrome. In: Genodermatosis, A Clinical Guide to Genetic Skin Disorders. Baltimore, Md: Lippincott Williams & Wilkins; 2005:118-9.

  5. Tilsley DA, Burden PW. A case of Maffucci's syndrome. Br J Dermatol. Sep 1981;105(3):331-6. [Medline].

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Further Reading

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Keywords

dyschondrodysplasia with hemangiomas, enchondromatosis with multiple cavernous hemangiomas, multiple angiomas and endochondromas

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Contributor Information and Disclosures

Author

Raymond T Kuwahara, MD, Dermatologist, Private Practice
Raymond T Kuwahara, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

Coauthor(s)

Ron Rasberry, MD, Chief of Dermatology, Veterans Medical Center at Memphis; Associate Professor, Department of Dermatology, University of Tennessee at Memphis
Ron Rasberry, MD is a member of the following medical societies: American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, Arkansas Medical Society, Association of Military Surgeons of the US, Royal Society of Medicine, and Southern Medical Association
Disclosure: Nothing to disclose.

Medical Editor

Jean Paul Ortonne, MD, Chair, Department of Dermatology, Professor, Hospital L'Archet, Nice University, France
Jean Paul Ortonne, MD is a member of the following medical societies: American Academy of Dermatology and American Dermatological Association
Disclosure: Nothing to disclose.

Pharmacy Editor

Richard P Vinson, MD, Assistant Clinical Professor, Department of Dermatology, Texas Tech University School of Medicine; Consulting Staff, Mountain View Dermatology, PA
Richard P Vinson, MD is a member of the following medical societies: American Academy of Dermatology, Association of Military Dermatologists, Texas Dermatological Society, and Texas Medical Association
Disclosure: Nothing to disclose.

Managing Editor

Lester F Libow, MD, Dermatopathologist, South Texas Dermatopathology Laboratory
Lester F Libow, MD is a member of the following medical societies: American Academy of Dermatology, American Society of Dermatopathology, and Texas Medical Association
Disclosure: Nothing to disclose.

CME Editor

Catherine Quirk, MD, Clinical Assistant Professor, Department of Dermatology, Brown University
Catherine Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology
Disclosure: Nothing to disclose.

Chief Editor

William D James, MD, Paul R Gross Professor of Dermatology, University of Pennsylvania School of Medicine; Vice-Chair, Program Director, Department of Dermatology, University of Pennsylvania Health System
William D James, MD is a member of the following medical societies: American Academy of Dermatology and Society for Investigative Dermatology
Disclosure: elsevier Royalty Other; american college of physicians Honoraria Other

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