Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Edit custom filters

Results by year

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

Year Number of Results
2021 6
2022 6
2023 6
2024 5
2025 6
2026 2

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

26 results

Results by year

Filters applied: . Clear all
Page 1
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. .. …
BACKGROUND: Proteus syndrome is an ultra-rare mosaic overgrowth disorder. Individuals with Proteus syndrome can …
Cerebriform Plaques in Proteus Syndrome.
Liu JW, Ma DL. Liu JW, et al. Mayo Clin Proc. 2023 Sep;98(9):1422. doi: 10.1016/j.mayocp.2023.05.010. Mayo Clin Proc. 2023. PMID: 37661150 No abstract available.
Tumour spectrum in AKT1-related Proteus syndrome: a systematic review of clinical reports and series.
Rostagni OM, Early CL, Hodges MB, Obasohan JO, Sapp JC, Livinski AA, Biesecker LG, Ours CA. Rostagni OM, et al. J Med Genet. 2025 Jan 27;62(2):74-81. doi: 10.1136/jmg-2024-110173. J Med Genet. 2025. PMID: 39643433 Free PMC article.
AKT1-related Proteus syndrome is an ultra-rare mosaic overgrowth disorder with tumour predisposition. ...A systematic review was conducted to identify clinical reports and clinical series of Proteus syndrome published between 1983 and 2023. Affected in …
AKT1-related Proteus syndrome is an ultra-rare mosaic overgrowth disorder with tumour predisposition. ...A systematic review w …
Multimodal ocular imaging in Proteus syndrome.
Salerni A, Scartozzi L, Piccinni F, Mosca L, Mattei R, Leoni C, Onesimo R, Zampino G, Rizzo S. Salerni A, et al. Eur J Ophthalmol. 2023 Sep;33(5):NP5-NP10. doi: 10.1177/11206721221125852. Epub 2022 Sep 13. Eur J Ophthalmol. 2023. PMID: 36113118 Free PMC article.
In this report we illustrate the ophthalmologic assessment of two patients affected by Proteus Syndrome (PS), an extremely rare genetic disorder. Case #1 describes a 26 year old male patient followed for multiple ophthalmic anomalies: a limbal dermoid cyst, a unilat …
In this report we illustrate the ophthalmologic assessment of two patients affected by Proteus Syndrome (PS), an extremely rar …
Ophthalmic manifestations and treatments of proteus syndrome: a case report and systematic review.
Jia RB, Wang YF, Jia RB. Jia RB, et al. Eur Rev Med Pharmacol Sci. 2023 Nov;27(21):10313-10321. doi: 10.26355/eurrev_202311_34306. Eur Rev Med Pharmacol Sci. 2023. PMID: 37975355 Free article.
BACKGROUND: Proteus syndrome (PS) is an extremely rare disorder with ocular manifestations. In this study, we aimed to describe the ophthalmic characteristics and the clinical course of an unusual PS patient to acquire a comprehensive and intensive understanding of …
BACKGROUND: Proteus syndrome (PS) is an extremely rare disorder with ocular manifestations. In this study, we aimed to describ …
Proteus Syndrome: Case Report with Anatomopathological Correlation.
Arredondo Montero J, Bronte Anaut M, López-Gutiérrez JC. Arredondo Montero J, et al. Fetal Pediatr Pathol. 2022 Oct;41(5):861-864. doi: 10.1080/15513815.2021.1989097. Epub 2021 Oct 20. Fetal Pediatr Pathol. 2022. PMID: 34668833
Background: Proteus syndrome is characterized by a progressive segmental or patchy growth of bone, skin, adipose tissue, and central nervous system, associated with a wide range of neoplasms, pulmonary pathology, and thrombotic risk. ...Discussion: CLOVES syndrome, …
Background: Proteus syndrome is characterized by a progressive segmental or patchy growth of bone, skin, adipose tissue, and c …
Proteus Syndrome: A Rare Disease Of Disproportionate And Asymmetric Overgrowth Of Connective Tissue.
Qaisar F, Butt NI, Ajmal Ghoauri MS, Azhar M, Javed MU, Samad A. Qaisar F, et al. J Ayub Med Coll Abbottabad. 2023 Feb-Mar;35(1):177-179. doi: 10.55519/JAMC-01-11210. J Ayub Med Coll Abbottabad. 2023. PMID: 36849404 Free article.
Proteus syndrome is a rare disease manifested by progressive segmental overgrowth involving the skeletal, Cutaneous, subcutaneous, and nervous systems. ...She had become bed-bound for the last few years due to increasing disability. She was diagnosed with Proteus …
Proteus syndrome is a rare disease manifested by progressive segmental overgrowth involving the skeletal, Cutaneous, subcutane …
Characterizing Paratesticular Neoplasms in Proteus Syndrome.
Matoso A, Vang R, Xing D, Killian JK, Meltzer PS, Keppler-Noreuil KM, Redick C, Biesecker LG, Ours CA. Matoso A, et al. Am J Surg Pathol. 2026 Mar 1;50(3):326-337. doi: 10.1097/PAS.0000000000002498. Epub 2025 Dec 11. Am J Surg Pathol. 2026. PMID: 41368924
Proteus syndrome is a rare mosaic overgrowth disorder caused by somatic activating variants in AKT1 , most commonly the c.49G>A p....Among 64 males with genetically confirmed Proteus syndrome enrolled in a longitudinal natural history study, 12 (19% …
Proteus syndrome is a rare mosaic overgrowth disorder caused by somatic activating variants in AKT1 , most commonly the c.49G& …
Late-onset Proteus syndrome with cerebriform connective tissue nevus and subsequent development of intraductal papilloma.
Modlin EW, Slavotinek AM, Darling TN, Lipkowitz S, Barr FG, Munster PN, Biesecker LG, Ours CA. Modlin EW, et al. Am J Med Genet A. 2022 Sep;188(9):2766-2771. doi: 10.1002/ajmg.a.62761. Epub 2022 Apr 20. Am J Med Genet A. 2022. PMID: 35441778 Free PMC article.
Proteus syndrome (PS) is a rare segmental overgrowth disorder caused by a mosaic activating variant in AKT1. ...While similar neoplasms have been described in an individual with Proteus syndrome, none has been evaluated for the presence of the AKT1 var …
Proteus syndrome (PS) is a rare segmental overgrowth disorder caused by a mosaic activating variant in AKT1. ...While similar …
Phenotypic Features of Cystic Lung Disease in Proteus Syndrome: A Clinical Trial.
Keppler-Noreuil KM, Burton-Akright J, Kleiner DE, Sapp JC, Lindhurst MJ, Han CG, Biesecker LG, Gochuico BR. Keppler-Noreuil KM, et al. Ann Am Thorac Soc. 2022 Nov;19(11):1871-1880. doi: 10.1513/AnnalsATS.202111-1214OC. Ann Am Thorac Soc. 2022. PMID: 35839129 Free PMC article.
Objectives: To define the phenotype of cystic lung disease in Proteus syndrome. Methods: Medical records, pulmonary function tests, and chest computed tomography of 39 individuals with Proteus syndrome evaluated at a single center were retrospectively …
Objectives: To define the phenotype of cystic lung disease in Proteus syndrome. Methods: Medical records, pulmonary function t …
26 results