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About 283 results

ALLMedicine™ Proteus Syndrome Center

Research & Reviews  106 results

Progressive frontal intraosseous lipoma: Detection of the mosaic AKT1 variant discloses...
https://doi.org/10.1111/cge.14174
Clinical Genetics; Schmidt J, Bremmer F et. al.

Jun 8th, 2022 - Proteus syndrome is a very rare disorder with progressive, asymmetrical, and disproportionate overgrowth of body parts with a highly variable phenotype. It is associated with mosaicism for the recurrent heterozygous somatic gain-of-function varian...

Study of Miransertib (MK-7075) in Participants With PIK3CA-related Overgrowth Spectrum and Proteus Syndrome (MOSAIC) (MK-7075-002)
https://clinicaltrials.gov/ct2/show/NCT03094832

May 16th, 2022 - The study consists of two parts: Part A and Part B. Part A was closed to enrollment under Amendment 6. As of Amendment 7, the endpoints for Part A and Part B have been combined to assess the safety and tolerability of miransertib in participants w...

Development of the Clinical Gestalt Assessment: a visual clinical global impression sca...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034583
Orphanet Journal of Rare Diseases; Ours CA, Hodges MB et. al.

Apr 25th, 2022 - Clinical outcome assessments are important tools for measuring the natural history of disease and efficacy of an intervention. The heterogenous phenotype and difficult to quantity features of Proteus syndrome present challenges to measuring clinic...

Late-onset Proteus syndrome with cerebriform connective tissue nevus and subsequent dev...
https://doi.org/10.1002/ajmg.a.62761
American Journal of Medical Genetics. Part A; Modlin EW, Slavotinek AM et. al.

Apr 21st, 2022 - Proteus syndrome (PS) is a rare segmental overgrowth disorder caused by a mosaic activating variant in AKT1. The features of PS are often not present at birth but develop during the first few years of life. We describe a 55-year-old female, whose ...

Phenotypic and molecular characterization of five patients with PIK3CA-related overgrow...
https://doi.org/10.1002/ajmg.a.62709
American Journal of Medical Genetics. Part A; Gökpınar İli E, Taşdelen E et. al.

Mar 4th, 2022 - Somatic and germline PI3K-AKT-mTOR pathway pathogenic variants are involved in several segmental overgrowth phenotypes such as the PIK3CA-related overgrowth spectrum (PROS), Proteus syndrome, and PTEN hamartoma tumor syndrome. In this study, we de...

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Clinicaltrials.gov  1 results

Study of Miransertib (MK-7075) in Participants With PIK3CA-related Overgrowth Spectrum and Proteus Syndrome (MOSAIC) (MK-7075-002)
https://clinicaltrials.gov/ct2/show/NCT03094832

May 16th, 2022 - The study consists of two parts: Part A and Part B. Part A was closed to enrollment under Amendment 6. As of Amendment 7, the endpoints for Part A and Part B have been combined to assess the safety and tolerability of miransertib in participants w...

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News  6 results

Tuberous Sclerosis With Segmental Overgrowth
https://www.mdedge.com/dermatology/article/220905/pediatrics/tuberous-sclerosis-segmental-overgrowth
Timothy A. Durso, MD, Wendy Schumacher-Kim, DO

Apr 17th, 2020 - To the Editor: A 3-year-old boy with a history of tuberous sclerosis presented to our clinic for evaluation of bumps on the second and third fingers of the left hand. Physical examination revealed firm rubbery nodules on the palmar third metacarpo.

Adult-Onset Asymmetrical Lipomatosis
https://www.mdedge.com/dermatology/article/200467/mixed-topics/adult-onset-asymmetrical-lipomatosis?channel=44
Xinyi Yang, BMed MD, MMed(ClinEpi), Megan Rogge, MD et. al.

May 8th, 2019 - To the Editor: An 85-year-old woman presented with extra growth of subcutaneous fat at the left anterior infradiaphragm that expanded circumferentially to the left back over the last 4 years. Two years prior to the current presentation, the left t.

Adult-Onset Asymmetrical Lipomatosis
https://www.mdedge.com/dermatology/article/200467/mixed-topics/adult-onset-asymmetrical-lipomatosis
Xinyi Yang, BMed MD, MMed(ClinEpi), Megan Rogge, MD et. al.

May 8th, 2019 - To the Editor: An 85-year-old woman presented with extra growth of subcutaneous fat at the left anterior infradiaphragm that expanded circumferentially to the left back over the last 4 years. Two years prior to the current presentation, the left t.

Certain skin conditions signal potential overgrowth disorder
https://www.mdedge.com/pediatrics/article/174332/dermatology/certain-skin-conditions-signal-potential-overgrowth-disorder
Doug Brunk

Sep 9th, 2018 - LAKE TAHOE, CALIF. – Mosaicism makes everything in genetics more challenging, but it also enables researchers to understand how genes and cell pathways work in cancer and during human development, Leslie G.

Recurrent Cerebriform Connective Tissue Nevus on the Foot of a Patient With Proteus Syndrome
https://www.mdedge.com/dermatology/article/115831/pediatrics/recurrent-cerebriform-connective-tissue-nevus-foot-patient
Jianbing Wu, MD, PhD, Qiang Wang, MD, PhD et. al.

Oct 18th, 2016 - To the Editor: A 12-year-old girl presented with discomfort and walking limitation caused by cutaneous masses on the plantar aspects of the feet with associated bone abnormalities that had started as several flesh-colored papules on the plantar su.

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