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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1987 1
1989 1
1990 1
1991 1
1993 2
1994 1
1995 2
1998 2
1999 1
2002 7
2003 3
2004 5
2005 2
2006 3
2007 4
2008 1
2009 7
2010 4
2011 3
2012 3
2014 6
2015 9
2016 2
2017 5
2018 3
2019 5
2020 4
2021 5
2022 5
2024 2

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89 results

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Page 1
Epidermal nevus syndromes.
Asch S, Sugarman JL. Asch S, et al. Handb Clin Neurol. 2015;132:291-316. doi: 10.1016/B978-0-444-62702-5.00022-6. Handb Clin Neurol. 2015. PMID: 26564089 Review.
Several subsets of ENS with characteristic features have been delineated including the nevus sebaceus syndrome, Proteus syndrome, CHILD syndrome, Becker's nevus syndrome, nevus comedonicus syndrome, and phakomatosis pigmentokeratotica. ...
Several subsets of ENS with characteristic features have been delineated including the nevus sebaceus syndrome, Proteus syndrome …
Hemihyperplasia syndromes.
Dalal AB, Phadke SR, Pradhan M, Sharda S. Dalal AB, et al. Indian J Pediatr. 2006 Jul;73(7):609-15. doi: 10.1007/BF02759927. Indian J Pediatr. 2006. PMID: 16877856
RESULTS: Of the 17 cases with hemihyperplasia, 3 cases satisfied the diagnostic criteria for Proteus syndrome. One patient each was ascertained as Klippel Trenaunay Weber syndrome and Hemihyperplasia- Multiple lipomatosis. 9 cases were classified as isolated hemihyp …
RESULTS: Of the 17 cases with hemihyperplasia, 3 cases satisfied the diagnostic criteria for Proteus syndrome. One patient eac …
Vascular malformations syndromes: an update.
Martinez-Lopez A, Salvador-Rodriguez L, Montero-Vilchez T, Molina-Leyva A, Tercedor-Sanchez J, Arias-Santiago S. Martinez-Lopez A, et al. Curr Opin Pediatr. 2019 Dec;31(6):747-753. doi: 10.1097/MOP.0000000000000812. Curr Opin Pediatr. 2019. PMID: 31693582 Review.
CLOVES syndrome and Klippel-Trenaunay syndrome are PROS disease. Proteus syndrome is an overgrowth syndrome caused by a somatic activating mutation in AKT1. ...
CLOVES syndrome and Klippel-Trenaunay syndrome are PROS disease. Proteus syndrome is an overgrowth syndrome caused by a somati …
Cowden syndrome.
Gustafson S, Zbuk KM, Scacheri C, Eng C. Gustafson S, et al. Semin Oncol. 2007 Oct;34(5):428-34. doi: 10.1053/j.seminoncol.2007.07.009. Semin Oncol. 2007. PMID: 17920899 Review.
These disorders include Bannayan-Riley-Ruvalcaba syndrome (BRRS), Proteus syndrome (PS), and Proteus-like syndrome (PSL). These syndromes can be described under the umbrella of PTEN hamartoma tumor syndrome (PHTS). ...
These disorders include Bannayan-Riley-Ruvalcaba syndrome (BRRS), Proteus syndrome (PS), and Proteus-like syndrome (PSL). Thes …
What's New in Genetic Skin Diseases.
Hill CR, Theos A. Hill CR, et al. Dermatol Clin. 2019 Apr;37(2):229-239. doi: 10.1016/j.det.2018.11.004. Dermatol Clin. 2019. PMID: 30850045 Review.
Hamartomatous polyposis syndromes: a review.
Jelsig AM, Qvist N, Brusgaard K, Nielsen CB, Hansen TP, Ousager LB. Jelsig AM, et al. Orphanet J Rare Dis. 2014 Jul 15;9:101. doi: 10.1186/1750-1172-9-101. Orphanet J Rare Dis. 2014. PMID: 25022750 Free PMC article. Review.
Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syn …
Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamar …
Quantification of Proteus syndrome-associated lung disease.
Ours CA, Buser A, Hodges MB, Chen MY, Sapp JC, Gochuico BR, Biesecker LG. Ours CA, et al. Orphanet J Rare Dis. 2024 Feb 6;19(1):44. doi: 10.1186/s13023-023-03013-9. Orphanet J Rare Dis. 2024. PMID: 38321508 Free PMC article.
BACKGROUND: Proteus syndrome is an ultra-rare mosaic overgrowth disorder. Individuals with Proteus syndrome can develop emphysematous and cystic changes of the lung that may lead to progressive respiratory symptoms and require surgical intervention. Th …
BACKGROUND: Proteus syndrome is an ultra-rare mosaic overgrowth disorder. Individuals with Proteus syndrome can …
The Forgotten Phacomatoses: A Neuroimaging Review of Rare Neurocutaneous Disorders.
Samara A, Gusman M, Aker L, Parsons MS, Mian AY, Eldaya RW. Samara A, et al. Curr Probl Diagn Radiol. 2022 Sep-Oct;51(5):747-758. doi: 10.1067/j.cpradiol.2021.07.002. Epub 2021 Aug 28. Curr Probl Diagn Radiol. 2022. PMID: 34607749 Review.
In this review, we focus on rare neurocutaneous syndromes: Melanophakomatoses (Ie, Neurocutaneous Melanosis, and Incontinentia Pigmenti), Vascular Phakomatoses (Ie, Ataxia Telangiectasia and PHACE Syndrome), and other conditions such as Cowden Syndrome, Basal Nevus Syndrome, Schw …
In this review, we focus on rare neurocutaneous syndromes: Melanophakomatoses (Ie, Neurocutaneous Melanosis, and Incontinentia Pigmenti), Va …
Advances in Skeletal Dysplasia Genetics.
Geister KA, Camper SA. Geister KA, et al. Annu Rev Genomics Hum Genet. 2015;16:199-227. doi: 10.1146/annurev-genom-090314-045904. Epub 2015 Apr 22. Annu Rev Genomics Hum Genet. 2015. PMID: 25939055 Free PMC article. Review.
Proteus syndrome.
Bilkay U, Tokat C, Ozek C, Gundogan H, Erdem O, Gurler T, Cagdas A. Bilkay U, et al. Scand J Plast Reconstr Surg Hand Surg. 2003;37(5):307-10. doi: 10.1080/02844310310000446. Scand J Plast Reconstr Surg Hand Surg. 2003. PMID: 14649692
Proteus syndrome is a rare sporadic, hamartoneoplastic disorder of vascular, skeletal, and soft tissues that causes asymmetry of the skull, body, arms, and the legs. ...
Proteus syndrome is a rare sporadic, hamartoneoplastic disorder of vascular, skeletal, and soft tissues that causes asymmetry …
89 results