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Page 1
The challenges of Proteus syndrome: diagnosis and management.
Biesecker L. Biesecker L. Eur J Hum Genet. 2006 Nov;14(11):1151-7. doi: 10.1038/sj.ejhg.5201638. Epub 2006 Aug 2. Eur J Hum Genet. 2006. PMID: 16883308 Review.
Proteus syndrome (PS) is a disorder of patchy or mosaic postnatal overgrowth of unknown etiology. ...Our group advocates stringent diagnostic criteria to facilitate research and appropriate clinical care. The benefit of strict criteria is that they define a c …
Proteus syndrome (PS) is a disorder of patchy or mosaic postnatal overgrowth of unknown etiology. ...Our group advocates strin …
Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation.
Biesecker LG, Happle R, Mulliken JB, Weksberg R, Graham JM Jr, Viljoen DL, Cohen MM Jr. Biesecker LG, et al. Am J Med Genet. 1999 Jun 11;84(5):389-95. doi: 10.1002/(sici)1096-8628(19990611)84:5<389::aid-ajmg1>3.0.co;2-o. Am J Med Genet. 1999. PMID: 10360391 Review.
Proteus syndrome is a complex disorder comprising malformations and overgrowth of multiple tissues. ...This intrinsic variability has led to diagnostic confusion associated with a dearth of longitudinal data on the natural history of Proteus syndrome. …
Proteus syndrome is a complex disorder comprising malformations and overgrowth of multiple tissues. ...This intrinsic variabil …
A dyadic genotype-phenotype approach to diagnostic criteria for Proteus syndrome.
Sapp JC, Buser A, Burton-Akright J, Keppler-Noreuil KM, Biesecker LG. Sapp JC, et al. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):565-570. doi: 10.1002/ajmg.c.31744. Epub 2019 Nov 6. Am J Med Genet C Semin Med Genet. 2019. PMID: 31692258 Free PMC article.
Phenotype-based diagnostic criteria were developed for Proteus syndrome in 1999 and updated in 2006. Subsequently, the causative mosaic gene alteration was discovered, the c.49G>A p.E17K variant in AKT1. ...We have taken the opportunity of these discoveries to re …
Phenotype-based diagnostic criteria were developed for Proteus syndrome in 1999 and updated in 2006. Subsequently, the causati …
Phenotype/genotype correlations in epidermal nevus syndrome as a neurocristopathy.
Flores-Sarnat L, Sarnat HB. Flores-Sarnat L, et al. Handb Clin Neurol. 2015;132:9-25. doi: 10.1016/B978-0-444-62702-5.00002-0. Handb Clin Neurol. 2015. PMID: 26564069 Review.
The two most frequent, keratinocytic nevus syndrome and linear sebaceous nevus syndrome, also correspond to the neurological phenotypes. ...The impact of neurological and systemic manifestations is related to onset and extent of the mutations. Timing of the mutation …
The two most frequent, keratinocytic nevus syndrome and linear sebaceous nevus syndrome, also correspond to the neurological p …
Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases.
Turner JT, Cohen MM Jr, Biesecker LG. Turner JT, et al. Am J Med Genet A. 2004 Oct 1;130A(2):111-22. doi: 10.1002/ajmg.a.30327. Am J Med Genet A. 2004. PMID: 15372514 Review.
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 …
The utility of published cases is wholly dependent upon accurate diagnosis of those patients. In our experience, the rate of misdiagnosis in …
Vascular Anomaly Syndromes in the ISSVA Classification System: Imaging Findings and Role of Interventional Radiology in Management.
Wang MX, Kamel S, Elsayes KM, Guillerman RP, Habiba A, Heng L, Revzin M, Mellnick V, Iacobas I, Chau A. Wang MX, et al. Radiographics. 2022 Oct;42(6):1598-1620. doi: 10.1148/rg.210234. Radiographics. 2022. PMID: 36190850
Syndromes associated with simple vascular malformations include hereditary hemorrhagic telangiectasia, blue rubber bleb nevus syndrome, Gorham-Stout disease, and primary lymphedema. Syndromes categorized as vascular malformations associated with other anomalies include Kli …
Syndromes associated with simple vascular malformations include hereditary hemorrhagic telangiectasia, blue rubber bleb nevus syndrome …
Prenatal diagnosis of a fetus with Proteus syndrome.
Fogarty L, Currie L, Skidmore D, Oviedo A, Sinha N, Coolen J. Fogarty L, et al. Prenat Diagn. 2018 May;38(6):467-470. doi: 10.1002/pd.5252. Epub 2018 Apr 15. Prenat Diagn. 2018. PMID: 29574940 No abstract available.
Syndromes with focal overgrowth in infancy: diagnostic approach and surgical treatment.
Mirastschijski U, Altmann S, Lenz-Scharf O, Muschke P, Schneider W. Mirastschijski U, et al. J Plast Surg Hand Surg. 2012 Feb;46(1):45-8. doi: 10.3109/02844310902957728. Epub 2010 Sep 6. J Plast Surg Hand Surg. 2012. PMID: 21446802
Syndromes with focal overgrowth are sporadic diseases and comprise Proteus syndrome and congenital lipomatous overgrowth, vascular malformations, and epidermal naevi (CLOVE) syndrome, and isolated hemihyperplasia. ...
Syndromes with focal overgrowth are sporadic diseases and comprise Proteus syndrome and congenital lipomatous overgrowth, vasc …