Review
Pediatrics
Piero Pavone, Lidia Marino, Giovanni Cacciaguerra, Alessandra Di Nora, Enrico Parano, Giuseppe Musumeci, Martino Ruggieri, Agata Polizzi, Raffaele Falsaperla
Summary: Klippel-Trenaunay syndrome is a rare congenital disorder characterized by capillary malformation, varicosities, and tissue and bone hypertrophy. Two out of three signs are enough for diagnosis. While capillary malformations are present at birth, venous varicosities and limb hypertrophy become more evident later. The syndrome has a benign course but can lead to serious complications involving various organs. Recent advances in the understanding of its genetic basis and treatment modalities have been made.
Article
Clinical Neurology
Anthony Larson, Tristan Covington, Katelyn Anderson, Megha Tollefson, Giuseppe Lanzino, Waleed Brinjikji
Summary: This study identified a variety of spinal neurovascular anomalies in 116 KTS patients, including venous developmental anomalies, cavernous malformations, and arteriovenous shunts, suggesting the potential presence of spinal neurovascular anomalies in KTS patients.
Article
Radiology, Nuclear Medicine & Medical Imaging
Zhe Wen, Guansheng Tong, Yong Liu
Summary: The study found that lymphoscintigraphy can help evaluate patients with KTS and guide treatments like thoracic duct decompression, leading to significant symptomatic relief for the patients.
CLINICAL NUCLEAR MEDICINE
(2021)
Review
Dermatology
K. R. Anderson, H. Nguyen, J. J. Schoch, C. M. Lohse, D. J. Driscoll, M. M. Tollefson
Summary: Skin-related complications affect nearly half of patients with KTS, with the most common complications being related to CM, including blebs, bleeding, thickening, and cellulitis. Patients with LM involvement, VM in certain areas, CM on the feet, and male sex are at higher risk of skin-related complications, while those with CM on the trunk and tissue hypertrophy of the hands are less likely to experience such complications.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2021)
Article
Genetics & Heredity
Jing Xu, Mengyao Liu, Hongtu Yuan, Zengjun Liu, Dongyuan Zhu
Summary: This study presents the first case of primary pleural angiosarcoma in a 17-year-old woman with a history of Klippel-Trenaunay syndrome, revealing an activating mutation in PIK3CA in the tumor tissue. The findings suggest an association and, perhaps, a causal link between these two different PIK3CA-related genetic diseases.
FRONTIERS IN GENETICS
(2022)
Article
Obstetrics & Gynecology
Wenpeng Xue, Xiaomeng Yan, Xinying Yu, Xiaofang Tang, Hongbin Xu
Summary: This study reported a case of successful delivery for a KTS pregnant woman by oxytocin combined with balloon catheter induction for the first time, providing more delivery options.
EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY
(2023)
Article
Genetics & Heredity
Viola Bianca Serio, Maria Palmieri, Simona Innamorato, Lorenzo Loberti, Chiara Fallerini, Francesca Ariani, Enrica Antolini, Jasmine Covarelli, Massimo Vaghi, Elisa Frullanti, Alessandra Renieri, Anna Maria Pinto
Summary: We present a case of Klippel Trenaunay Syndrome that was monitored for 9 years using both clinical and molecular methods. The patient had a somatic mosaic mutation of PIK3CA, which was detected using cfDNA NGS liquid biopsy and tissue biopsy. The presence of clonal mutations in PIK3CA background led to the development of squamous cell carcinoma in the affected leg and later bilateral lung adenocarcinoma, ultimately causing the patient's death from metastases. Our study highlights the importance of treating PIK3CA mutated tissues as precancerous lesions and demonstrates the effectiveness of combining cfDNA NGS liquid and tissue biopsies for disease monitoring and targeted therapy.
FRONTIERS IN GENETICS
(2023)
Article
Immunology
Eleni Vergadi, Ioannis Goniotakis, Sofia Maraki, Emmanouil Galanakis
Summary: Streptococcus pseudoporcinus is a rare pathogen in adults but can cause invasive infections in children, especially in the presence of predisposing conditions. Infections in children, such as cellulitis and bacteremia, can be difficult to treat and may require prolonged antibiotic courses.
PEDIATRIC INFECTIOUS DISEASE JOURNAL
(2021)
Article
Gastroenterology & Hepatology
Lin Han, Shifeng Chen, Shengping Jiang
Summary: Gastrointestinal bleeding caused by gastrointestinal tract involvement in patients with Klippel-Trenaunay syndrome (KTS) is extremely rare and should not be overlooked. Endoscopy and imaging modalities are synergistically helpful in diagnosing this condition.
BMC GASTROENTEROLOGY
(2021)
Article
Medicine, General & Internal
Ling-Li Li, Rui Xie, Fu-Qing Li, Cheng Huang, Bi-Guang Tuo, Hui-Chao Wu
Summary: This article reports a rare case of KTS characterized by crossed-bilateral limb hypertrophy accompanied by intermittent hematochezia and hematuria. The patient was diagnosed with a complex form of KTS after relevant examinations. The study highlights the importance of recognizing atypical manifestations and rare complications of KTS.
WORLD JOURNAL OF CLINICAL CASES
(2023)
Article
Medicine, General & Internal
Ben Silverman, Gurtej Bajaj, Eric Liu, Adison Weseloh, Adrian Popescu
Summary: Proteus syndrome is a rare overgrowth disease that causes symptoms such as scoliosis and spinal stenosis. We report a case of a 35-year-old male patient who underwent multiple zygapophyseal joint injections for the treatment of severe back pain caused by PS, highlighting the utility of interventional spinal procedures in managing pain in PS patients.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2022)
Article
Medicine, General & Internal
Piotr Terlecki, Karol Terlecki, Stanislaw Przywara, Marek Ilzecki, Michal Toborek, Radoslaw Pietura, Pawel Maga, Mikolaj Maga, Tomasz Zubilewicz
Summary: In this retrospective study, six patients with KTS who underwent treatment with the Flebogrif system were evaluated. The results showed improvement in the patients' clinical condition and significant improvement in aesthetic outcomes. Only one patient experienced recanalization of ablated veins, and no serious systemic complications occurred during the follow-up period.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Medicine, General & Internal
Hongna Yang, Binfeng Du, Han Liu, Yong Yao, Chen Li
Summary: This case report describes a patient with Klippel-Trenaunay Syndrome (KTS) and hypofibrinogenemia who experienced recurrent lethal postoperative bleeding due to a ruptured hemorrhagic corpus luteum. The case suggests that conservative therapy may be the first choice and effective treatment for KTS patients with bleeding complications of surgical therapy.
FRONTIERS IN MEDICINE
(2021)
Article
Engineering, Biomedical
Marco Amabili, Giulio Franchini, Meisam Asgari, Francesco Giovanniello, Mergen H. Ghayesh, Ivan D. Breslavsky
Summary: This study investigated the mechanical characteristics of an aorta affected by Klippel-Trenaunay syndrome. The results showed reduced stiffness and decreased response to vasoactive agents in the circumferential direction.
JOURNAL OF THE MECHANICAL BEHAVIOR OF BIOMEDICAL MATERIALS
(2023)
Article
Genetics & Heredity
M. Luu, P. Vabres, H. Devilliers, R. Loffroy, A. Phan, L. Martin, F. Morice-Picard, F. Petit, M. Willems, D. Bessis, M. L. Jacquemont, A. Maruani, C. Chiaverini, T. Mirault, J. Clayton-Smith, M. Carpentier, C. Fleck, A. Maurer, M. Yousfi, V. E. R. Parker, R. K. Semple, M. Bardou, L. Faivre
Summary: This study aimed to establish the tolerability and efficacy of low-dose taselisib in PROS patients, with functional improvement observed but safety concerns preventing long-term use. Two out of 19 enrolled patients experienced dose-limiting toxicities leading to early trial termination, while no significant reduction in affected tissue volume was observed in the study. Despite some clinical improvements reported by participants, the overall safety profile of low-dose taselisib raises doubts about its long-term viability.
GENETICS IN MEDICINE
(2021)
Article
Radiology, Nuclear Medicine & Medical Imaging
Raphael Yoo, Ahmad I. Alomari, Raja Shaikh, Scott L. Davis, Michael A. Ferguson, Kashayar Vakili, Heung-Bae Kim, Gulraiz Chaudry
JOURNAL OF VASCULAR AND INTERVENTIONAL RADIOLOGY
(2017)
Article
Oncology
Caitlin M. Peterman, R. Dawn Fevurly, Ahmad I. Alomari, Cameron C. Trenor, Denise M. Adams, Sophie Vadeboncoeur, Marilyn G. Liang, Arin K. Greene, John B. Mulliken, Steven J. Fishman
PEDIATRIC BLOOD & CANCER
(2017)
Article
Cardiac & Cardiovascular Systems
Gulraiz Chaudry, Anna P. Lillis, Raja Shaikh, Horacio M. Padua, Rush H. Chewning, Ahmad I. Alomari
CARDIOVASCULAR AND INTERVENTIONAL RADIOLOGY
(2018)
Article
Surgery
Heung Bae Kim, Khashayar Vakili, Gabriel J. Ramos-Gonzalez, Deborah R. Stein, Michael A. Ferguson, Diego Porras, James E. Lock, Gulraiz Chaudry, Ahmad Alomari, Steven J. Fishman
JOURNAL OF VASCULAR SURGERY
(2018)
Article
Surgery
Wibke Uller, Sherif El-sobky, Ahmad I. Alomari, Steven J. Fishman, Samantha A. Spencer, Amir H. Taghinia, Gulraiz Chaudry
VASCULAR AND ENDOVASCULAR SURGERY
(2018)
Article
Surgery
Joseph Reis, Ahmad Alomari, Cameron C. Trenor, Denise M. Adams, Steven J. Fishman, Samantha A. Spencer, Raja Shaikh, Anna P. Lillis, Murali K. Surnedi, Gulraiz Chaudry
JOURNAL OF VASCULAR SURGERY-VENOUS AND LYMPHATIC DISORDERS
(2018)
Article
Pediatrics
Amir H. Taghinia, Joseph Upton, Cameron C. Trenor, Ahmad Alomari, Anna P. Lillis, Raja Shaikh, Patricia E. Burrows, Steven J. Fishman
JOURNAL OF PEDIATRIC SURGERY
(2019)
Letter
Cardiac & Cardiovascular Systems
Mohammed H. Alomari, Anna Lillis, Cindy Kerr, Jane W. Newburger, Luis Quinonez, Ahmad I. Alomari
CARDIOVASCULAR AND INTERVENTIONAL RADIOLOGY
(2019)
Article
Genetics & Heredity
Sarah F. Barclay, Kyle W. Inman, Valerie L. Luks, John B. McIntyre, Alyaa Al-Ibraheemi, Alanna J. Church, Antonio R. Perez-Atayde, Shamlal Mangray, Michael Jeng, Sara R. Kreimer, Lori Walker, Steven J. Fishman, Ahmad I. Alomari, Gulraiz Chaudry, Cameron C. Trenor, Denise Adams, Harry P. W. Kozakewich, Kyle C. Kurek
GENETICS IN MEDICINE
(2019)
Article
Orthopedics
Kevin Cheung, Amir H. Taghinia, Ravi F. Sood, Ahmad I. Alomari, Samantha A. Spencer, Alyaa Al-Ibraheemi, Harry P. W. Kozakewich, Gulraiz Chaudry, Arin K. Greene, John B. Mulliken, Cameron C. Trenor, Steven J. Fishman, Joseph Upton
JOURNAL OF HAND SURGERY-AMERICAN VOLUME
(2020)
Article
Orthopedics
Kemble K. Wang, Rachel L. Glenn, Denise M. Adams, Ahmad Alomari, Alyaa Al-Ibraheemi, Megan E. Anderson, Gulraiz Chaudry, Steven J. Fishman, Arin K. Greene, Raja Shaikh, Cameron C. Trenor, Harry P. Kozakewich, Samantha A. Spencer
JOURNAL OF PEDIATRIC ORTHOPAEDICS
(2020)
Article
Peripheral Vascular Disease
Jeremy A. Goss, Dennis J. Konczyk, Patrick J. Smits, Harry P. W. Kozakewich, Ahmad I. Alomari, Alyaa Al-Ibraheemi, Amir H. Taghinia, Belinda H. Dickie, Denise M. Adams, Steven J. Fishman, John B. Mulliken, Matthew L. Warman, Arin K. Greene
Article
Radiology, Nuclear Medicine & Medical Imaging
Yan Epelboym, Dawn R. Engelkemier, Frederic Thomas-Chausse, Ahmad I. Alomari, Alyaa Al-Ibraheemi, Cameron C. Trenor, Denise M. Adams, Gulraiz Chaudry
Editorial Material
Radiology, Nuclear Medicine & Medical Imaging
Kumar Kempegowda Shashi, Gulraiz Chaudry, Ahmad Alomari, Rush Chewning
JOURNAL OF VASCULAR AND INTERVENTIONAL RADIOLOGY
(2019)
Article
Pediatrics
Andrew Jackson Murphy, Anna P. Lillis, Harry P. Kozakewich, Ahmad I. Alomari, Heung Bae Kim, Victor L. Fox
JOURNAL OF PEDIATRIC SURGERY CASE REPORTS
(2017)