Articles approved by the Proteus Syndrome Foundation

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA Marjorie J Lindhurst1,16, Victoria E R Parker2,16, Felicity Payne3, Julie C Sapp1, Simon Rudge4, Julie Harris2, Alison M Witkowski1, Qifeng Zhang4, Matthijs P Groeneveld2, Carol E Scott3, Allan Daly3, Susan M Huson5, Laura L Tosi6, Michael L Cunningham7, Thomas N Darling8, Joseph […]

Read More » | November 13, 2014 | Category: Articles | Comments: none

Assessment and management of the orthopedic and other complications of Proteus syndrome

Laura L. Tosi •  Julie C. Sapp •  Elizabeth S. Allen • Regis J. O’Keefe •  Leslie G. Biesecker Tosi et al 2011

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The Manifold Faces of Proteus Syndrome

By Rudolf Happle, MD In this issue of the Archives, Nguyen and Colleagues present a clinically oriented study of 24 consecutive patients with Proteus syndrome who were evaluated at the National Institutes of Health in Bethesda, Md.1 The diagnostic criteria of Proteus syndrome proposed by an international working group some years ago were met in […]

Read More » | June 2, 2011 | Category: Articles | Comments: none

Proteus Syndrome article

By Leslie G. Biesecker, MD » Click here for Full Article (PDF)

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Proteus Syndrome: Misdiagnosis With PTEN Mutations

In this editorial, we briefly (1) define Proteus syndrome; (2) analyze reports of PTEN mutations claimed to have ‘‘Proteus syndrome’’ or a ‘‘Proteus-like syndrome’’; (3) demonstrate the high frequency of misdiagnosis of Proteus syndrome by clinicians less familiar with the disorder; and (4) discuss two series of patients who do meet the diagnostic criteria for […]

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The Multifaceted Challenges of Proteus Syndrome

By Leslie G. Biesecker, MD » Click here for Full Article (PDF)

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Sudden death caused by pulmonary thromboembolism in Proteus Syndrome

Proteus syndrome (PS) is a highly variable disorder whose main clinical findings comprise connective tissue and epidermal nevi, disproportionate overgrowth, early growth of specific tumor types, dysregulation of adipose tissue and vascular malformations (1). No biochemical, cytogenetic or molecular basis for PS has so far been identified. It has been suggested that the condition is […]

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Adaptation to Proteus Syndrome: Tale of a Journey

By Barbara Biesecker My remarks are dedicated to you who have Proteus syndrome or who are the parents of children with Proteus syndrome.  Each of your stories about being affected with Proteus or being a parent of a child with Proteus is unique and important.  My comments will be limited in capturing your personal story.  […]

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Facing Challenges

By Jocie Lyon After attending this year’s PSF conference, Kim asked me if I would share my experience as an adult who has Proteus Syndrome. I jumped at the opportunity because I have been meaning to do this for quite some time. I became truly in- spired after meeting and talking with so many wonderful […]

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Reassessment of the Proteus Syndrome Literature: Application of Diagnostic Criteria to Published Cases

The medical care of patients affected by rare disaorders depends heavily on experiences garnered from prior cases, including those patients evaluated by the treating physician and those published. Click here for more info

Read More » | April 25, 2011 | Category: Articles | Comments: none