Dermatologic findings in individuals with genetically confirmed Proteus syndrome

2021 ◽  
Author(s):  
Deeti J. Pithadia ◽  
Alexander M. Cartron ◽  
Leslie G. Biesecker ◽  
Thomas N. Darling
Keyword(s):  
Proteus Syndrome

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.

scholarly journals Esthetic and Functional Improvement of Asymmetric Lower Limb Overgrowth in a Proteus Syndrome Patient: a Combined Surgical Technique

2021 ◽  
Author(s):  
Francesca Riccardi ◽  
Simone Catapano ◽  
Giuseppe Cottone ◽  
Dino Zilio ◽  
Luca Vaienti
Keyword(s):  
Adipose Tissue ◽  
Lower Limb ◽  
Vascular Malformations ◽  
Functional Improvement ◽  
Proteus Syndrome ◽  
Phosphatase And Tensin Homolog ◽  
Tensin Homolog ◽  
Genetic Mosaicism ◽  
Phosphoinositide 3 Kinase ◽  
The Right

AbstractProteus syndrome is a rare, sporadic, congenital syndrome that causes asymmetric and disproportionate overgrowth of limbs, connective tissue nevi, epidermal nevi, alteration of adipose tissue, and vascular malformations. Genetic mosaicism, such as activating mutations involving protein kinase AKT1, phosphoinositide 3 kinase (PI3-K), and phosphatase and tensin homolog (PTEN), may be important causes of Proteus syndrome. However, many patients have no evidence of mutations in these genes. Currently, the diagnosis is clinical and based on phenotypic features. This article reports a case of Proteus syndrome in a 14-year-old female patient who presented with linear epidermal nevi, viscera anomalies, and adipose tissue dysregulation. She showed an asymmetric progressive overgrowth of the right lower limb after birth bringing relevant functional and esthetic consequences. Therefore, she asked a plastic surgery consultation and a surgical treatment with a combined technique was planned. With our approach, we were able to reduce leg diameter and improve joint mobility reliably and safely with satisfying esthetic results.

Su1707 PROTEUS SYNDROME: A RARE CASE OF NON-CIRRHOTIC PORTAL HYPERTENSION MANIFESTING AS REFRACTORY ASCITES

2020 ◽  
Vol 158 (6) ◽  
pp. S-1389-S-1390
Author(s):  
Sharon Joseph ◽  
Ranjit S. Makar ◽  
Daisy S. Lankarani ◽  
Zeid Kayali
Keyword(s):  
Portal Hypertension ◽  
Rare Case ◽  
Refractory Ascites ◽  
Proteus Syndrome

Proteus syndrome in pregnancy: A case report

2020 ◽  
pp. 1753495X2097079
Author(s):  
Niccole Ranaei-Zamani ◽  
Mandeep K Kaler ◽  
Rehan Khan
Keyword(s):  
Case Report ◽  
Case Reports ◽  
Proteus Syndrome ◽  
Cutaneous Lesions ◽  
Genetic Syndrome ◽  
Skeletal Tissue ◽  
First Case ◽  
Large Teaching Hospital ◽  
Clinical Presentations ◽  
In Pregnancy

Proteus syndrome is a rare, multi-system, genetic syndrome characterised by atypical and excessive growth of skeletal tissue. Clinical presentations include abnormal musculoskeletal growth and cutaneous lesions. Due to its rarity, there have been a limited number of published case reports of Proteus syndrome. This is the first case report on the management of Proteus syndrome in pregnancy. We present the case of a pregnant woman with Proteus syndrome in her first pregnancy in a large teaching hospital and discuss the considerations and challenges faced in her antenatal, intrapartum and postnatal care.

Proteus Syndrome

1989 ◽  
Vol 6 (4) ◽  
pp. 344-345 ◽  
Author(s):  
Teresa Costa ◽  
Bernice R. Krafchik
Keyword(s):  
Proteus Syndrome

scholarly journals A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome

2011 ◽  
Vol 365 (7) ◽  
pp. 611-619 ◽  
Author(s):  
Marjorie J. Lindhurst ◽  
Julie C. Sapp ◽  
Jamie K. Teer ◽  
Jennifer J. Johnston ◽  
Erin M. Finn ◽  
...  
Keyword(s):  
Proteus Syndrome ◽  
Activating Mutation

scholarly journals Penile Reconstruction for a Case of Genital Lymphoedema Secondary to Proteus Syndrome

ISRN Urology ◽  
2011 ◽  
Vol 2011 ◽  
pp. 1-3
Author(s):  
F. Ashouri ◽  
J. Manners ◽  
R. Rees
Keyword(s):  
Urinary Catheter ◽  
Sexual Debut ◽  
Proteus Syndrome ◽  
Main Concern ◽  
Penile Skin ◽  
Penile Shaft ◽  
Cosmetic Appearance ◽  
Minimal Scarring ◽  
Thickness Skin

To our knowledge penile lymphoedema secondary to Proteus syndrome has not previously been reported. Hence we report a case of a 16-year-old male who was referred with features of right hemi-hypertrophy and severe lymphoedema affecting his scrotum and penis. He had previously undergone scrotal reduction surgery at the age of 13, but had since developed worsening penile oedema. His main concern was that of cosmetic appearance prior to sexual debut, and he also complained of erectile dysfunction. An MRI confirmed gross oedema of the penile skin, but normal underlying cavernosal structure, and no other anatomical abnormality. Under general anaesthesia, the entire diseased penile skin was excised. Two full thickness skin grafts were harvested from the axillae, and grafted onto the dorsal and ventral penile shaft respectively. A compressive dressing and urinary catheter was applied for 7 days. Follow-up at 4 months confirmed complete graft take with minimal scarring, and the patient was very satisfied with the cosmetic outcome. He had also noticed a recovery in erectile activity, and feels psychologically and physically more prepared for sexual relations.

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