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

  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},
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… 
Proteus syndrome: Clinical diagnosis of a series of cases
The diagnostic rate of only 46.1% of patients with PS confirms the diagnostic difficulties and the need for continuous monitoring and periodic review of these patients since the clinical manifestations of this syndrome become more evident with aging.
Proteus syndrome: Clinical profile of six patients and review of literature
Clinical profile of Proteus syndrome is described in six patients, characterized by patchy or segmental overgrowth and hyperplasia of multiple tissues and organs, along with susceptibility to development of tumors.
Myths and Misdiagnoses of Proteus Syndrome.
Molecular testing should be mandatory for any patient claimed to have a genetic disorder of known molecular etiology if they are to be published in the scientific literature as the literature will otherwise be populated by reports of patients with incorrect diagnoses, leading to incorrect conclusions and management by the readers of these articles.
Proteus syndrome: A case report and review of the literature.
The patient was a 34-year-old man with clinical manifestations suggestive of the Proteus syndrome, including mosaic distribution of the lesions, sporadic occurrence, progressive course, disproportionate overgrowth of the legs, epidermal nevi, lipomas, venous malformations and characteristic facial phenotype.
The challenges of Proteus syndrome: diagnosis and management
Effective management of Proteus syndrome requires knowledge of the wide array of manifestations and complications of the disorder and a team approach that includes the geneticist, surgeons, and other specialists.
A case report of Proteus syndrome (PS)
A PS case with atypical clinical features and syndromes was reported, to improve the understanding of the diagnosis and treatment of the disease.
Neurological manifestations of Proteus syndrome – review of the literature.
The neurological manifestations of Proteus syndrome are frequent and important hallmark of the disease, and the awareness of them among neurologists may increase efficacy of the syndrome management.
Proteus Syndrome: About Two Paediatrics Cases
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
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.


Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation.
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
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].
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
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
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.
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
  • 1988
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.
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.