Reassessment of the Proteus syndrome literature: Application of diagnostic criteria to published cases

@article{Turner2004ReassessmentOT,
  title={Reassessment of the Proteus syndrome literature: Application of diagnostic criteria to published cases},
  author={Joyce T. Turner and M. Michael Cohen and Leslie G. Biesecker},
  journal={American Journal of Medical Genetics Part A},
  year={2004},
  volume={130A}
}
The medical care of patients affected by rare disorders depends heavily on experiences garnered from prior cases, including those patients evaluated by the treating physician and those published in the medical literature. The utility of published cases is wholly dependent upon accurate diagnosis of those patients. In our experience, the rate of misdiagnosis in Proteus syndrome (PS) is high. Diagnostic criteria have been published, but these criteria have not been applied consistently and were… 
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
The authors report two cases in two boys aged three and eight years respectively of Proteus syndrome, which exposes to a high risk of benign tumours and deep venous thrombosis and the variability of abnormalities and the risks incurred required multidisciplinary management.
A Case of Concurrent Proteus Syndrome and Hemophilia A
TLDR
The case of Proteus syndrome in a two-year-old male, who had hemophilia A comorbidity, outlines the challenges in diagnosis of such rare combination of diseases.
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References

SHOWING 1-10 OF 168 REFERENCES
Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation.
TLDR
This is a review of recommendations for diagnostic criteria, differential diagnosis, and guidelines for the evaluation of patients on Proteus syndrome held in March 1998 at the National Institutes of Health.
Pathology of Lipomatous Lesions in Proteus Syndrome
  • T. Tihan, Jonathan Okun
  • Medicine
    Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
  • 1998
TLDR
A case of Proteus syndrome with multiple disfiguring soft tissue masses that were present since early childhood is presented, and it is believed that a more informed evaluation of the pathology material may help to identify this rare entity.
[Proteus syndrome. Expansion of the phenotype. Apropos of 3 pediatric cases].
TLDR
Macrodactyly, "chimp's" feet and a broad thoracic cage are considered by us to be clinical hallmarks of the Proteus syndrome.
A novel ophthalmic presentation of the Proteus syndrome.
Proteus syndrome: emphasis on the pulmonary manifestations
TLDR
This report highlights the features of this disease with specific attention to the serious pulmonary manifestations that may occur at an early age, with complete autopsy in one case and correlative surgical pathologic data in the other.
Pelvic lipomatosis in the Proteus syndrome: a further diagnostic sign
TLDR
Examination of the Proteus syndrome patients evaluated by ultrasound and CT revealed a diffuse increase in the fat content of pelvic soft tissues and thickening of the epimysium between the small and middle left gluteus muscles due to a marked increase in their fat content.
Proteus syndrome: report of two cases with pelvic lipomatosis.
TLDR
Two other patients with the Proteus syndrome are reported, who, in addition, were found to have abdominal and pelvic lipomatosis.
Understanding Proteus syndrome, unmasking the elephant man, and stemming elephant fever.
  • M. Cohen
  • Medicine, Psychology
    Neurofibromatosis
  • 1988
TLDR
Various suggested diagnoses for the elephant man's disorder are evaluated, and it is concluded that he suffered from Proteus syndrome, not neurofibromatosis.
Cerebriform fibrous proliferation vs. proteus syndrome.
TLDR
The authors present a 48-year-old woman who had been evaluated for a lesion on the plantar aspect of her left foot that was diagnosed as keloid and was treated unsuccessfully and thought this unique lesion may be a localized form of Proteus syndrome.
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