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About 110 results

ALLMedicine™ Bannayan-riley-ruvalcaba Syndrome Center

Research & Reviews  42 results

Bannayan-Riley-Ruvalcaba syndrome with gingival hyperpigmentation and facial papules.
https://doi.org/10.1111/pde.14691
Pediatric Dermatology; Niklinska EB, Lyons EM et. al.

Jul 15th, 2021 - One of the distinctive cutaneous manifestations of Bannayan-Riley-Ruvalcaba syndrome (BRRS), a PTEN hamartoma tumor syndrome, is penile pigmented macules. We present a 13-year-old boy with gingival hyperpigmentation along with facial and ear angio...

PTEN Hamartoma Tumor Syndrome - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/phts/

Feb 11th, 2021 - The PTEN hamartoma tumor syndrome (PHTS) includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome (PS), and PTEN-related Proteus-like syndrome.

Bannayan-Riley-Ruvalcaba syndrome
https://rarediseases.info.nih.gov/diseases/5887/bannayan-riley-ruvalcaba-syndrome

May 13th, 2020 - Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a genetic condition that leads to the growth of both non-cancerous and cancerous tumors. Symptoms of BRRS may include large head size, increased birth weight, developmental delay, and intellectual disabi...

Imaging of PTEN-related abnormalities in the central nervous system.
https://doi.org/10.1016/j.clinimag.2019.12.006
Clinical Imaging; Dhamija R, Hoxworth JM

Jan 14th, 2020 - The phosphatase and tensin homolog (PTEN) located at 10q23.31 is a tumor suppressor gene expressed ubiquitously, and loss of function mutations lead to aberrant growth, angiogenesis, and an increased risk for a variety of tumors. PTEN mutations ha...

Toward Systems Pathology for PTEN Diagnostics.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7197423
Cold Spring Harbor Perspectives in Medicine; Haddadi N, Travis G et. al.

Oct 17th, 2019 - Germline alterations of the tumor suppressor PTEN have been extensively characterized in patients with PTEN hamartoma tumor syndromes, encompassing subsets of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes, ...

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Clinicaltrials.gov  1 results

Open Label Study of Everolimus (RAD001) in Patients With Segmental Overgrowth Syndrome
https://clinicaltrials.gov/ct2/show/NCT02569125

Sep 28th, 2017 - Segmental overgrowth syndromes are very rare diseases with an extremely relevant genetic background. In some of them, only about 200 cases are known worldwide, such as for example the Proteus syndrome which presents with asymmetric and fast growth...

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News  1 results

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/page/0/1

Oct 18th, 2016 - To make a diagnosis of PS, one must have all the general criteria and various specific criteria. The revised diagnostic criteria for PS are given in the Table.

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