The challenges of Proteus syndrome: diagnosis and management
Open Access
- 2 August 2006
- journal article
- review article
- Published by Springer Science and Business Media LLC in European Journal of Human Genetics
- Vol. 14 (11), 1151-1157
- https://doi.org/10.1038/sj.ejhg.5201638
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.Keywords
This publication has 23 references indexed in Scilit:
- Evolution of skin lesions in Proteus syndromeJournal of the American Academy of Dermatology, 2005
- Reassessment of the Proteus syndrome literature: Application of diagnostic criteria to published casesAmerican Journal of Medical Genetics Part A, 2004
- Reply to Kirk et al.American Journal of Medical Genetics, 2004
- Germline mutation of the tumour suppressor PTEN in Proteus syndromeJournal of Medical Genetics, 2002
- PTEN mutations are uncommon in Proteus syndromeJournal of Medical Genetics, 2001
- Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosisHuman Molecular Genetics, 2000
- Neoplasms in proteus syndromeAmerican Journal of Medical Genetics, 1995
- Proteus SyndromePediatric Dermatology, 1994
- Lethal genes surviving by mosaicism: A possible explanation for sporadic birth defects involving the skinJournal of the American Academy of Dermatology, 1987
- Encephalocraniocutaneous lipomatosis and proteus syndromeAmerican Journal of Medical Genetics, 1986