Zobrazeno 1 - 10
of 1 908
pro vyhledávání: '"klippel trenaunay syndrome"'
Publikováno v:
Indian Dermatology Online Journal, Vol 15, Iss 3, Pp 480-486 (2024)
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
Externí odkaz:
https://doaj.org/article/feba746bfb254165bb3df4627c074d86
Autor:
Kalliopi Magounaki, Emmanouil Kalafatis, Dimitris Stergiou, Maria Tzaki, Dionysios Vekios, Aggelos Papakalos and Ioannis Kyriazis
Publikováno v:
International Journal of Caring Sciences, Vol 17, Iss 1, Pp 603-609 (2024)
Chiari I Malformation and Intramedullary Hemorrhage in a Female Patient with Klippel Trenaunay Syndrome: A Rare Case Report Study
Externí odkaz:
https://doaj.org/article/4655537ff02b48d989b747878c5ac61b
Autor:
Ann Marie Mojica, Adam D. Wolfe
Publikováno v:
MedEdPORTAL, Vol 20 (2024)
Introduction Vascular anomalies are a spectrum of disorders, including vascular tumors and malformations, that often require multispecialty care. The rarity and variety of these lesions make diagnosis, treatment, and management challenging. Despite t
Externí odkaz:
https://doaj.org/article/a38a962607f04fb48243eb75aa426432
Autor:
Nouf Almuhanna, MD, Sarah Alkhezzi, MD, Rasha Alhamazani, MD, Mohammed Aljughayman, MD, Bushra Saeed Alasmari, MD, Abdulaziz Sultan Alsuhibani, MD, Faris A. Alhomida, MD
Publikováno v:
JAAD Case Reports, Vol 43, Iss , Pp 4-6 (2024)
Externí odkaz:
https://doaj.org/article/a4fa06eb82a74ebf8d2babc73a3736f6
Publikováno v:
TNOA Journal of Ophthalmic Science and Research, Vol 62, Iss 1, Pp 91-93 (2024)
We report a case of 6-year-old boy presented with dimness of vision having a past history of recurrent seizure for last four years and was found to have glaucoma in both eyes. He also had port-wine stain over both sides of face and hypertrophy of lef
Externí odkaz:
https://doaj.org/article/f353fee305954e5697f94e18c36d9587
Autor:
Yuki Sasaki, Kosuke Ishikawa, Kanako C. Hatanaka, Yumiko Oyamada, Yusuke Sakuhara, Tadashi Shimizu, Tatsuro Saito, Naoki Murao, Tomohiro Onodera, Takahiro Miura, Taku Maeda, Emi Funayama, Yutaka Hatanaka, Yuhei Yamamoto, Satoru Sasaki
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
Abstract Background Klippel–Trenaunay syndrome (KTS) is a rare slow-flow combined vascular malformation with limb hypertrophy. KTS is thought to lie on the PIK3CA-related overgrowth spectrum, but reports are limited. PIK3CA encodes p110α, a cataly
Externí odkaz:
https://doaj.org/article/b88c018bb5c14062bd0c85b60103e7c1
Publikováno v:
Veins and Lymphatics, Vol 12, Iss 1 (2023)
Klippel-Trénaunay Syndrome (KTS) is a vascular disorder characterized by a combination of vascular malformations (capillary, lymphatic, and venous) and limb overgrowth. Pelvis involvement is less frequent and is often underrecognized. We report a ca
Externí odkaz:
https://doaj.org/article/92070aaff3a34e9296ab293dd085f21f
Autor:
Tamotsu Kobayashi, Akihiro Fujino, Ryoya Furugane, Naoki Hashizume, Teizaburo Mori, Motohiro Kano, Eiichiro Watanabe, Masataka Takahashi, Akihiro Yoneda, Yutaka Kanamori
Publikováno v:
Global Pediatrics, Vol 5, Iss , Pp 100071- (2023)
Background: Cellulitis is a common complication of cystic lymphatic malformations (cLM) and Klippel–Trenaunay syndrome (KTS). Cellulitis in the pediatric population requires hospitalization and reduces a patients’ quality of life. This study aime
Externí odkaz:
https://doaj.org/article/9b6ffb0986cb41d0b546027bc560922d
Autor:
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
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
We report a case of Klippel Trenaunay Syndrome that was monitored both clinically and molecularly over a period of 9 years. A somatic mosaic mutation of PIK3CA (p(E545G)) was identified using both cfDNA NGS liquid biopsy and tissue biopsy. At the age
Externí odkaz:
https://doaj.org/article/0e0f10440df84657a564c930ae93a0ba
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