898 results match your criteria: "Proteus Syndrome"
Prenatal Diagnosis of Proteus Syndrome: About a Case.
Am J Med Genet A
December 2024
Constitutional Genetics Laboratory, CHU Amiens Picardie, Amiens, France.
Proteus syndrome (PS) is a rare disorder (< 1/1000000), marked by progressive overgrowth commonly impacting the skeleton, skin, adipose tissue, and central nervous system. Clinical criteria were established in 2019. PS arises from a somatic activating variation in the AKT1 gene.
View Article and Find Full Text PDFTumour spectrum in -related Proteus syndrome: a systematic review of clinical reports and series.
J Med Genet
December 2024
Center for Precision Health Research, National Human Genome Research Institute, Bethesda, Maryland, USA
-related Proteus syndrome is an ultra-rare mosaic overgrowth disorder with tumour predisposition. We conducted a systematic review to determine the range and characteristics of these tumours. A systematic review was conducted to identify clinical reports and clinical series of Proteus syndrome published between 1983 and 2023.
View Article and Find Full Text PDFProteus syndrome: A rare case report.
Asian J Surg
December 2024
Department of Neurosurgery, Sanbo Brain Hospital, Beijing, China. Electronic address:
Management of Children with Megafoot Secondary to Proteus Syndrome: A Report of Three Cases with Long-Term Follow-Up.
J Am Podiatr Med Assoc
November 2024
*Department of Orthopaedics and Traumatology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Background: Proteus syndrome is a rare disorder characterized by overgrowth of limbs and organs and neurocutaneous findings.
Methods: We examined three Proteus syndrome cases with unilateral foot enlargement, megafoot. The patients had ambulatory and cosmetic difficulties.
Intraspinal lipomatous neurofibroma in a child with atypical Proteus syndrome.
Childs Nerv Syst
December 2024
Department of Neurological Surgery, New Jersey Pediatric Neuroscience Institute, 131 Madison Ave 3rd Floor, Morristown, NJ, 07960, USA.
Severe lupus nephritis in a young adult with PTEN hamartoma tumour syndrome.
BMJ Case Rep
September 2024
Department of Internal Medicine, Kantonsspital Graubünden, Chur, Graubünden, Switzerland
Article Synopsis
- * Mutations in this gene are linked to hamartoma tumor syndrome, leading to various disorders, including Bannayan-Riley-Ruvalcaba and Cowden syndromes.
- * A recent case study describes a man in his late 20s with a PTEN mutation, who developed lupus nephritis, indicating a possible connection between the mutation and immune system dysregulation.
Proteus syndrome with progressive paralysis of the unilateral lower limb: A rare case report and literature review.
Heliyon
August 2024
Department of Orthopaedics, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, China.
Objective: Proteus syndrome, a rare disorder with an incidence of one in a million, is characterized by connective tissue nevi, asymmetric limb overgrowth, and abnormal subcutaneous adipose tissue distribution. Limited awareness of this condition often hinders accurate clinical diagnosis. We report a case of Proteus syndrome with concurrent progressive paralysis in the unilateral lower limb, aiming to enhance understanding of the disease and its associated complications.
View Article and Find Full Text PDFAlterations of the AKT Pathway in Sporadic Human Tumors, Inherited Susceptibility to Cancer, and Overgrowth Syndromes.
Curr Top Microbiol Immunol
August 2024
Cancer Prevention and Control Program, Fox Chase Cancer Center, Philadelphia, PA, 19111, USA.
Article Synopsis
- The AKT kinases are vital signaling molecules that affect key cellular functions related to cancer, such as growth, survival, and spread of tumors.
- Dysregulation of the AKT pathway can occur when tumor suppressors are lost or oncogenes are activated, which is a common feature in many human cancers.
- The text reviews extensive research on how the AKT pathway is hyperactivated in both sporadic tumors and genetic cancer syndromes, and highlights its involvement in certain overgrowth disorders.
The antimicrobial susceptibility patterns of diabetic foot ulcers in the South African public healthcare sector.
S Afr Med J
May 2024
Department of Pharmacy and Pharmacology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Article Synopsis
- Diabetic foot syndrome involves diabetic foot ulcers and is complicated by factors like neuropathy and infections, making it challenging to choose effective antimicrobial treatments, especially due to multidrug-resistant infections.
- In South Africa, treatment protocols for these infections rely on general guidelines that may not reflect local bacterial behavior, prompting the need for research to tailor more effective treatments.
- A study analyzing 51 samples found that gentamicin and ciprofloxacin were the most effective antibiotics, while traditional first-line treatments were often ineffective against commonly isolated pathogens such as Proteus mirabilis and Pseudomonas aeruginosa.
Proteus Syndrome: Case Report and Updated Literature Review.
Arch Plast Surg
July 2024
Malopolska Burn and Plastic Surgery Center, Ludwik Rydygier Memorial Hospital in Krakow, Cracow, Poland.
Article Synopsis
- * A case study describes a two-year-old girl with PS who experienced overgrowth in her right buttock and foot, requiring multiple surgeries for aesthetic improvements.
- * The findings highlight the importance of focusing on aesthetic results in surgeries for genetic disorders to enhance the psychological well-being of affected children.
Lipomatoses.
Ann Endocrinol (Paris)
June 2024
CHU Lille, Endocrinology, Diabetology and Metabolism, 59000 Lille, France; University Lille, 59000 Lille, France; Inserm U1190, 59000 Lille, France; Competence center PRISIS, Endocrinology and Metabolism Department, CHU, Lille, France. Electronic address:
Article Synopsis
- * These conditions can arise in people without obesity, may have genetic links, and usually differ from lipodystrophy syndromes, which involve areas of fat loss.
- * The review discusses various forms of lipomatosis, including isolated conditions like Madelung disease and syndromic forms associated with genetic disorders, and highlights their potential impact on health and appearance.
Proteus Syndrome: A Rare Congenital Disorder.
Cureus
May 2024
Radiodiagnosis, Dr. D. Y. Patil Medical College, Hospital & Research Centre, Dr. D. Y. Patil Vidyapeeth, Pune, IND.
Article Synopsis
- Proteus syndrome is a rare congenital disorder that causes abnormal tissue growth from all three germ layers in the body.
- A case study of a 13-year-old girl shows she has various bony, soft tissue, and vascular problems, alongside developmental delays.
- The diagnosis emphasizes the need for imaging techniques combined with physical exams, pending the availability of a specific genetic test for the syndrome.
Dermato-Radiological Evaluation of Congenital Limb Overgrowth Vascular Syndromes.
Indian Dermatol Online J
April 2024
Department of Radiodiagnosis, ABVIMS and Dr. RML Hospital, New Delhi, Delhi, India.
International Society for the Study of Vascular Anomalies classification defines Congenital Limb Overgrowth Vascular Syndromes (CLOS) as a subset of vascular syndromes with other abnormalities that present with unilateral limb overgrowth. It includes Klippel-Trenaunay Syndrome, Parkes-Weber Syndrome, CLOVES (Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Spinal/Skeletal Anomalies/Scoliosis) Syndrome, Proteus Syndrome, PTEN Hamartomatous Syndrome, and Fibroadipose Vascular Anomaly. Due to their rare and complex nature, a multidisciplinary approach to diagnosis and treatment is required.
View Article and Find Full Text PDFAntimicrobial resistance in intensive care patients hospitalized with SEPSIS: a comparison between the COVID-19 pandemic and pre-pandemic era.
Front Med (Lausanne)
May 2024
Department of Anesthesiology, Critical Care Medicine and Emergency, Department of Innovative Technologies in Medicine and Dentistry, "G. d'Annunzio" University Chieti-Pescara, Chieti, Italy.
Article Synopsis
- COVID-19, caused by the SARS-CoV-2 virus, has led to millions of deaths and significant lifestyle changes, particularly impacting patients with sepsis in ICUs, where septic complications have a high mortality rate.
- A clinical study was conducted at SS Annunziata Hospital in Italy, analyzing ICU patients diagnosed with sepsis from 2018 to 2021, dividing them into groups based on the pandemic and COVID-19 status.
- Out of 1,559 ICU admissions, 211 patients met the sepsis criteria, revealing high mortality rates, especially amongst COVID-19 patients, with a notable relationship between mortality and scores on APACHE III and SOFA assessments.
Insights into Clinical Disorders in Cowden Syndrome: A Comprehensive Review.
Medicina (Kaunas)
May 2024
Department of Molecular Sciences, Faculty of Medicine, University of Medicine and Pharmacy "Iuliu Hațieganu", 400012 Cluj-Napoca, Romania.
Article Synopsis
- PTEN Hamartoma Tumour Syndrome (PHTS) includes various disorders like Cowden syndrome (CS), influenced by germline variants in the PTEN gene that lead to uncontrolled tissue growth.
- Cowden syndrome is the most common but still rare with an incidence of 1:200,000, and its specific impact and frequency are not well-documented across research.
- The review stresses the importance of early diagnosis for CS, which can extend patient lifespan and improve outcomes through continuous support from a multidisciplinary team.
Proteus syndrome: a dermatologist's perspective -case report.
Int J Dermatol
August 2024
Department of Dermatology, University Hospital Onofre Lopes, Federal University of Rio Grande do Norte, Natal, Brazil.
Case report: Association between PTEN-gene variant and an aggressive case of multiple dAVFs.
Front Neurol
April 2024
Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
Article Synopsis
- Mutations in the PTEN gene are linked to PTEN hamartoma tumor syndrome, which increases the risk of tumors and vascular issues, manifesting in conditions like Cowden syndrome and more.
- A case study of a 27-year-old woman showed persistent visual symptoms and headaches, eventually revealing a complex issue with multiple recurrent dural arteriovenous fistulas (dAVFs) despite initial treatments.
- Genetic testing identified a PTEN variant associated with Cowden syndrome, marking the emergence of a novel PTEN-related phenotype due to the patient's unique and aggressive vascular complications, despite the absence of typical tumor presentations.
Human vascular organoids with a mosaic mutation recapitulate Proteus syndrome.
bioRxiv
January 2024
Department of Biomedical Engineering, Columbia University, New York, NY 10027, USA.
Article Synopsis
- Proteus syndrome is characterized by vascular malformations, and researchers created a human vascular organoid model to study its pathology and explore drug options due to limited patient samples.
- Using CRISPR technology, they generated induced pluripotent stem cells with a specific AKT mutation, leading to organoids that exhibited increased vascular connectivity but less stable formations.
- The study found that AKT inhibitors could reverse vascular issues in these organoids, highlighting the model's potential for advancing drug development for Proteus syndrome and similar genetic conditions.
Quantification of Proteus syndrome-associated lung disease.
Orphanet J Rare Dis
February 2024
Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
Article Synopsis
- - Proteus syndrome is a rare disorder causing overgrowth and related lung issues, and this study aims to analyze lung disease features using radiographic scoring systems: the Cystic Lung Score (CLS) and the Clinician Visual Score (CVS).
- - Data from 113 imaging studies of 44 patients showed that worsening CLS and CVS scores correlated with increased respiratory symptoms and decreased lung function, particularly affecting children more severely than adults.
- - The findings suggest that Proteus syndrome-related lung disease progresses over time, and both scoring methods effectively track these changes, which could inform future treatment and research efforts.
Optic nerve compression: a rare ocular manifestation of Proteus syndrome.
J AAPOS
February 2024
Department of Ophthalmology, Children's Health Ireland, Dublin.
Article Synopsis
- Proteus syndrome leads to uneven and excessive growth affecting bones, skin, fat, and nerves, presenting unique challenges in patients.
- The case study discusses a 10-year-old girl with this syndrome who experienced several severe eye issues, including glaucoma and vision loss.
- Urgent imaging revealed significant bone overgrowth causing pressure on her optic nerves, and successful surgery relieved this pressure, improving her vision.
Sinonasal Neuroendocrine Carcinoma in Adult Proteus Syndrome.
Iran J Otorhinolaryngol
November 2023
Second ΕΝΤ Department, School of Medicine, "Attikon" University Hospital, National & Kapodistrian University of Athens, Athens, Greece.
Article Synopsis
- Proteus syndrome (PS) is a rare genetic disorder caused by mutations in the AKT1 or PTEN genes, leading to uneven tissue growth, while sinonasal neuroendocrine carcinomas (SNEC) are extremely rare tumors found in the nasal and ethmoid cavities.
- A 35-year-old PS patient had a successful surgical removal of a well-differentiated SNEC obstructing his nasal cavity, illustrating the importance of teamwork among healthcare professionals to ensure safe airway management and effective treatment.
- This case represents the first report of SNEC in a PS patient, suggesting a potential link between the conditions due to shared genetic pathways involving AKT1 variants.
Ophthalmic manifestations and treatments of proteus syndrome: a case report and systematic review.
Eur Rev Med Pharmacol Sci
November 2023
Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Article Synopsis
- Proteus syndrome (PS) is a rare disorder that can involve serious eye problems; this study focuses on understanding the unique ocular features in a specific patient case.
- The patient, a Chinese female, underwent a surgical procedure that temporarily improved her eye symptoms but the disease continued to progress over time.
- The research emphasizes the need for better recognition of ocular symptoms in PS, thorough documentation of treatment options, and the importance of teamwork among eye specialists for effective care.
Recurrent laryngeal lymphangiomatosis in a patient with Proteus syndrome: A case report.
Clin Case Rep
October 2023
Department of Otorhinolaryngology, Head and Neck Surgery University of Heidelberg Heidelberg Germany.
Article Synopsis
- Proteus syndrome is a rare genetic disorder marked by uneven growth in body parts, with this study focusing on a 29-year-old female patient suffering from recurrent lymphangioma in the larynx and hypopharynx.
- Treatment methods included laser surgery, systemic therapy with a PIK3CA inhibitor (alpelisib), and sclerotherapy, with limited success from systemic therapy due to side effects.
- The findings highlight that laser surgery is currently the most effective treatment for lymphangiomas in the head and neck region and emphasize the importance of a multidisciplinary approach for managing rare syndromic diseases.
Atypical compartment syndrome of the forearm due to mixed infection with Proteus mirabilis and Morganella morganii after a penetrating injury: A limb-saving approach.
Jt Dis Relat Surg
August 2023
Afyonkarahisar Sağlık Bilimleri Üniversitesi, Ortopedi ve Travmatoloji Anabilim Dalı, 03200 Afyonkarahisar, Türkiye.
Article Synopsis
- Compartment syndrome is an orthopedic emergency affecting all ages, often stemming from lower limb injuries but can also present atypically, such as in the case study of a 38-year-old male with forearm ACS after a minor knife injury.
- The patient developed an infected hematoma due to bacteria entering through the wound, leading to a serious infection that required surgical intervention.
- Early diagnosis and prompt treatment are crucial for preserving limb function and preventing severe complications or even death in cases of atypical compartment syndrome.
Lipomas: genetic basis of common skin lesions and their occurrence in rare diseases.
Postepy Dermatol Alergol
August 2023
Department of Endocrinology, Metabolism and Internal Diseases, Poznan University of Medical Sciences, Poznan, Poland.
Article Synopsis
- * The presence of HMGA2 in fat cells helps distinguish between normal tissue, lipomas, and more serious conditions like liposarcoma.
- * Lipomas can be linked to genetic disorders and may be inherited, appearing in various genetic syndromes, prompting a focus on their genetic basis in this study.