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[Isolated macrodactyly or extremely circumscribed Proteus syndrome?]
M Guelfi1, A Camera, F Picchetta
1Servizio di Ortopedia Infantile, Università di Genova.
Pathologica
|December 1, 1994
Summary
Two female patients presented with unilateral macrodactyly affecting different toes. Clinical findings suggest either isolated macrodactyly or a localized form of Proteus syndrome.
Area of Science:
- Medical genetics
- Dermatology
- Orthopedics
Background:
- Macrodactyly is a rare congenital condition characterized by the overgrowth of digits.
- Proteus syndrome is a complex overgrowth disorder with variable clinical manifestations.
Observation:
- Two unrelated female patients presented with unilateral macrodactyly affecting specific toes (1st and 2nd in one, 3rd-5th in the other).
- Both patients exhibited a local plantar soft tissue lump.
- Radiographic examination revealed abnormally broad phalanges in the affected toes.
Findings:
- The clinical presentation in these cases aligns with features of macrodactyly.
- The co-occurrence of macrodactyly, soft tissue lumps, and broad phalanges raises suspicion for Proteus syndrome.
- These findings highlight the potential for extremely localized presentations of Proteus syndrome.
Implications:
- This report expands the clinical spectrum of macrodactyly and Proteus syndrome.
- Early recognition of these signs is crucial for accurate diagnosis and management.
- Further research is warranted to differentiate isolated macrodactyly from localized Proteus syndrome.