scholarly journals Fibroadipose Hyperplasia versus Proteus Syndrome: Segmental Overgrowth with a Mosaic Mutation in the PIK3CA Gene

2015 ◽  
Vol 135 (5) ◽  
pp. 1450-1453 ◽  
Author(s):  
Leila Youssefian ◽  
Hassan Vahidnezhad ◽  
Taghi Baghdadi ◽  
Alireza Ghaznavi ◽  
Qiaoli Li ◽  
...  
Keyword(s):  
Proteus Syndrome ◽  
Pik3ca Gene ◽  
Segmental Overgrowth

scholarly journals PROTEUS SYNDROME - SEGMENTAL OVERGROWTH WITH MULTIPLE NEVI

2015 ◽  
Vol 04 (08) ◽  
pp. 1388-1393
Author(s):  
Ramasamy P P ◽  
Bharathi S ◽  
Eswaramoorthi B ◽  
Madhavan R ◽  
Maalik Babu A N M
Keyword(s):  
Proteus Syndrome ◽  
Segmental Overgrowth

Proteus Syndrome

2019 ◽  
pp. 199-216 ◽  
Author(s):  
Leslie G. Biesecker
Keyword(s):  
Somatic Mosaicism ◽  
Body Part ◽  
The Body ◽  
National Institutes Of Health ◽  
Proteus Syndrome ◽  
Neoplastic Disease ◽  
Increased Risk ◽  
Activating Mutation ◽  
Segmental Overgrowth ◽  
Overgrowth Syndromes

Proteus syndrome is an exceedingly rare disorder, perhaps the least common of all overgrowth syndromes but one of the most distinctive because of its segmental nature and unrelenting progression. Proteus syndrome occurs sporadically and was the first of the segmental overgrowth syndromes found to be caused by somatic mosaicism. The discovery of an activating mutation in AKT1 by Les Biesecker and colleagues at the National Institutes of Health provided the initial molecular proof for somatic mosaicism in Proteus syndrome. Overgrowth in Proteus syndrome can involve nearly any tissue or part of the body. Presumably a germline mutation that would affect all tissues of the body would be lethal. Overgrowth of a tissue or a body part is the distinctive manifestation of Proteus syndrome but in most cases will be accompanied by other cutaneous, skeletal, vascular, or soft tissue findings. Although the possibility of an increased risk for developing neoplastic disease is a concern in any overgrowth disorder, this has not been demonstrated in Proteus syndrome.

scholarly journals Clinical pitfalls in the diagnosis of segmental overgrowth syndromes: a child with the c.2740G > A mutation in PIK3CA gene

2018 ◽  
Vol 44 (1) ◽  
Author(s):  
Alice Maguolo ◽  
Franco Antoniazzi ◽  
Alice Spano ◽  
Elena Fiorini ◽  
Rossella Gaudino ◽  
...  
Keyword(s):  
Pik3ca Gene ◽  
Segmental Overgrowth ◽  
Overgrowth Syndromes

scholarly journals Characterization and Childhood Tumor Risk Assessment of Genetic and Epigenetic Syndromes Associated With Lateralized Overgrowth

2020 ◽  
Vol 8 ◽  
Author(s):  
Jessica R. Griff ◽  
Kelly A. Duffy ◽  
Jennifer M. Kalish
Keyword(s):  
Tumor Development ◽  
Current Data ◽  
The Body ◽  
Proteus Syndrome ◽  
Related Disorder ◽  
Screening Guidelines ◽  
Tumor Risk ◽  
Increased Risk ◽  
Segmental Overgrowth ◽  
Cell Growth And Proliferation

Lateralized overgrowth (LO), or segmental overgrowth, is defined as an increase in growth of tissue (bone, muscle, connective tissue, vasculature, etc.) in any region of the body. Some overgrowth syndromes, characterized by both generalized and lateralized overgrowth, have been associated with an increased risk of tumor development. This may be due to the underlying genetic and epigenetic defects that lead to disrupted cell growth and proliferation pathways resulting in the overgrowth and tumor phenotypes. This chapter focuses on the four most common syndromes characterized by LO: Beckwith-Wiedemann spectrum (BWSp), PIK3CA-related overgrowth spectrum (PROS), Proteus syndrome (PS), and PTEN hamartoma tumor syndrome (PHTS). These syndromes demonstrate variable risks for tumor development in patients affected by LO, and we provide a comprehensive literature review of all common tumors reported in patients diagnosed with an LO-related disorder. This review summarizes the current data on tumor risk among these disorders and their associated tumor screening guidelines. Furthermore, this chapter highlights the importance of an accurate diagnosis when a patient presents with LO as similar phenotypes are associated with different tumor risks, thereby altering preventative screening protocols.

Orthopaedic perspectives on CLOVES and Proteus syndrome - how to treat deformities related to overgrowth syndromes?

2020 ◽  
Author(s):  
A Laufer ◽  
A Frommer ◽  
G Gosheger ◽  
R Rödl ◽  
AM Rachbauer ◽  
...  
Keyword(s):  
Proteus Syndrome ◽  
Overgrowth Syndromes

Variability in the Proteus syndrome: report of an affected child with progressive lipomatosis

1985 ◽  
Vol 143 (4) ◽  
pp. 320-323 ◽  
Author(s):  
J. M�cke ◽  
H. Willgerodt ◽  
R. K�nzel ◽  
D. Brock
Keyword(s):  
Proteus Syndrome ◽  
Affected Child ◽  
Syndrome Report

scholarly journals Cardiothoracic imaging findings of Proteus syndrome

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
S. Mojdeh Mirmomen ◽  
Andrew E. Arai ◽  
Evrim B. Turkbey ◽  
Andrew J. Bradley ◽  
Julie C. Sapp ◽  
...  
Keyword(s):  
Cardiac Mri ◽  
Lung Parenchyma ◽  
Nonparametric Tests ◽  
Pulmonary Angiography ◽  
Left Ventricular ◽  
Proteus Syndrome ◽  
Imaging Findings ◽  
Septal Wall ◽  
Significant Difference ◽  
Hyperlucent Lung

AbstractIn this work, we sought to delineate the prevalence of cardiothoracic imaging findings of Proteus syndrome in a large cohort at our institution. Of 53 individuals with a confirmed diagnosis of Proteus syndrome at our institution from 10/2001 to 10/2019, 38 individuals (men, n = 23; average age = 24 years) underwent cardiothoracic imaging (routine chest CT, CT pulmonary angiography and/or cardiac MRI). All studies were retrospectively and independently reviewed by two fellowship-trained cardiothoracic readers. Disagreements were resolved by consensus. Differences between variables were analyzed via parametric and nonparametric tests based on the normality of the distribution. The cardiothoracic findings of Proteus syndrome were diverse, but several were much more common and included: scoliosis from bony overgrowth (94%), pulmonary venous dilation (62%), band-like areas of lung scarring (56%), and hyperlucent lung parenchyma (50%). In addition, of 20 individuals who underwent cardiac MRI, 9/20 (45%) had intramyocardial fat, mostly involving the endocardial surface of the left ventricular septal wall. There was no statistically significant difference among the functional cardiac parameters between individuals with and without intramyocardial fat. Only one individual with intramyocardial fat had mildly decreased function (LVEF = 53%), while all others had normal ejection fraction.

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