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[Proteus syndrome: report of two cases]
R Velázquez Fragua1, I Pascual-Castroviejo
1Servicio de Neurología Pediátrica. Hospital Universitario La Paz. Madrid. España. pascas@inves.es
Anales De Pediatria (Barcelona, Spain : 2003)
|May 2, 2003
Summary
Proteus syndrome presents with diverse mesodermal and skeletal issues. This study highlights its varied manifestations, including a rare pubic fracture in one case.
Area of Science:
- Medical Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Proteus syndrome is a rare congenital disorder characterized by mesodermal and skeletal malformations and hamartomatous overgrowth.
- The condition exhibits significant variability in clinical presentation and mosaic-patterned lesions, making diagnosis challenging.
Observation:
- This report details two cases of Proteus syndrome, emphasizing the wide polymorphism and diverse manifestations of the disorder.
- The second case presented with a pubic fracture, an injury not previously documented in the medical literature associated with Proteus syndrome.
Findings:
- The two cases underscore the extensive variability in Proteus syndrome presentation.
- A pubic fracture was observed in one patient, representing a novel finding in the context of Proteus syndrome.
Implications:
- Understanding the broad spectrum of Proteus syndrome is crucial for accurate diagnosis and patient management.
- The identification of a pubic fracture in Proteus syndrome may necessitate revised clinical guidelines and diagnostic considerations for affected individuals.