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Maffucci syndrome - Skin in Adult
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Maffucci syndrome - Skin in Adult

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Contributors: Amy Fox MD, David Dasher MD, Jeffrey D. Bernhard MD, Noah Craft MD, PhD, Lindy P. Fox MD, Lowell A. Goldsmith MD, MPH, Michael D. Tharp MD
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Synopsis

Maffucci's syndrome is a rare sporadic syndrome characterized by enchondromas and vascular malformations.

Patients develop enchondromas in early childhood that may increase in number and size until puberty. The enchondromas tend to predominate in extremities and along long bones. After puberty, sequelae associated with multiple enchondromas include fracture, limb length discrepancy, and malignant degeneration. The frequency of malignant degeneration, most commonly chondrosarcoma, developing within enchondromas is difficult to estimate but may occur in up to a quarter of cases, underscoring the importance of close clinical followup.

Vascular malformations are most commonly venous but can be lymphatics as well and develop along a similar time course as enchondromas, beginning in early childhood with progression until puberty. There is some predilection of vascular malformations near enchondromas, but they can occur anywhere.

Patients without malignant degeneration of enchondromas have a normal life expectancy. The degree of skeletal involvement is the most important predictor of associated morbidity.

For more information, see OMIM.

Codes

ICD10CM:
Q78.4 – Enchondromatosis

SNOMEDCT:
46041001 – Maffucci syndrome

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Ollier disease – enchondromas without vascular malformations
  • Blue rubber bleb nevus – widespread venous malformations without enchondromas
  • Proteus syndrome – characterized by progressive soft tissue and bony overgrowth with vascular malformations; radiographs will demonstrate bony hypertrophy without enchondromas

Best Tests

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Therapy

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References

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Last Updated: 03/29/2017
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Maffucci syndrome - Skin in Adult
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Maffucci syndrome : Pathologic fracture, Purple color, Smooth nodule, Foot or toes
Clinical image of Maffucci syndrome
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