The challenges of Proteus syndrome: diagnosis and management
1National Human Genome Research Institute, Building 49 Room 4A80, Bethesda, MD 20892, USA. leslieb@helix.nih.gov
Insights
Proteus syndrome (PS) is a rare overgrowth disorder with unknown causes. Strict diagnostic criteria are proposed to improve research and patient care for this progressive condition.
Area of Science:
- Genetics and rare diseases
- Developmental biology
- Clinical medicine
Background:
- Proteus syndrome (PS) is a rare disorder characterized by mosaic, postnatal overgrowth affecting any body tissue.
- Onset typically occurs in infancy, with common involvement of connective tissue, bone, skin, and the central nervous system.
- The etiology of Proteus syndrome remains unknown, contributing to diagnostic challenges.
Purpose of the Study:
- To advocate for stringent diagnostic criteria for Proteus syndrome.
- To define a homogenous clinical group for research and improved patient care.
- To highlight the progressive nature and management complexities of Proteus syndrome.
Main Methods:
- Review and proposal of stringent diagnostic criteria for Proteus syndrome.
- Emphasis on defining a homogenous patient cohort for research.
- Discussion of clinical manifestations and complications.
Main Results:
- Stringent diagnostic criteria are proposed to facilitate research and clinical management.
- Homogenous patient groups defined by strict criteria aid in understanding prognosis and manifestations.
- Progressive overgrowth in Proteus syndrome leads to significant complications.
Conclusions:
- Adoption of stringent diagnostic criteria is crucial for advancing Proteus syndrome research and care.
- Effective management necessitates a multidisciplinary team approach, acknowledging the disorder's wide-ranging manifestations.
- Key complications include severe orthopedic issues and life-threatening thromboembolic events.
Abstract:
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. Commonly involved tissues include connective tissue and bone, skin, central nervous system, the eye, but it apparently can affect any tissue. Diagnosing of PS is difficult and the diagnostic criteria are controversial. Our group advocates stringent diagnostic criteria to facilitate research and appropriate clinical care. The benefit of strict criteria is that they define a clinical group that is reasonably homogenous with respect to manifestations and prognosis. The overgrowth of PS is progressive and can be difficult to manage. The progressive overgrowth most commonly causes severe orthopaedic complications, but it can cause many other complications. One of the most common complications in patients with PS is deep venous thrombosis and pulmonary embolism, which can cause premature death. Effective management 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.
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