Articles

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 [...]

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

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 [...]

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

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 [...]

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.  [...]

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 [...]

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

Proteus Syndrome is sporadic disorder named for its highly variable manfestations. The disease causes tissue overgrowth in a mosaic pattern and may affect tissues derived from any germinal layer. Click here for more info

Proteus syndrome (PS) is a disorder of patchy or mosaic postnatal overgrowth of unknown etiology. The onset of overgrowth typically occurs in infancy and can involve any tissue of the body. Click here for more info