China
Africa
Explore chapters and articles related to this topic
Indications for genetic testing in evaluation of lymphatic and hemolymphatic malformations
Published in Byung-Boong Lee, Peter Gloviczki, Francine Blei, Jovan N. Markovic, Vascular Malformations, 2019
In addition to the consideration of somatic PIK3CA mutation, there are KTS-like disorders, with overgrowth and cutaneous vascular lesions, caused by mutations in genes other than PIK3CA.5 These would potentially include capillary malformations (GNAQ mutation),11 as well as segmental overgrowth, lipomatosis, arteriovenous malformation, and epidermal nevus (SOLAMEN) syndrome (PTEN mutation).12 Parkes Weber syndrome, originally described as the Klippel–Trenaunay–Weber syndrome (also known as Parkes Weber syndrome) is recognized to depend on RASA1 mutations.13 Furthermore, mutations in the RAS/MAPK/MEK signaling pathway have also been identified in patients with complex vascular anomalies.14 Mutations that dysregulate the RAS pathway, including those in EPHB4, KRAS, HRAS, NRAS, BRAF, RAF1, PTPN11, and SOS1, have been recognized in vascular anomalies. These mutations have been found in kaposiform lymphangiomatosis (KLA), central conducting lymphatic anomalies (CCLAs) and other lymphedema syndromes.15–17
Haemangiomas and Vascular Malformations
Published in John C Watkinson, Raymond W Clarke, Christopher P Aldren, Doris-Eva Bamiou, Raymond W Clarke, Richard M Irving, Haytham Kubba, Shakeel R Saeed, Paediatrics, The Ear, Skull Base, 2018
Daniel J. Tweedie, Benjamin E.J. Hartley
Although most cases are isolated, some may be associated with syndromes and/or other vascular malformations. These include Sturge–Weber syndrome: CM in the distribution of the ophthalmic branch of the trigeminal nerve (CN V1), seizures of neonatal onset, cataracts, learning difficulties and ipsilateral leptomeningeal angioma. Importantly, patients with large facial CM in the distribution of V1 may have ocular involvement, including glaucoma, and/or central nervous system involvement without other features of Sturge–Weber syndrome. Klippel–Trénaunay syndrome (CM, varicose veins, central visceral varices, lower limb hemihypertrophy) is rarer, with complications including variceal haemorrhage and thromboembolic events. These features together with the addition of an arteriovenous malformation (AVM) comprise the Parkes Weber syndrome, presenting in childhood with an enlarged, warm extremity.
Venous disorders
Published in Professor Sir Norman Williams, Professor P. Ronan O’Connell, Professor Andrew W. McCaskie, Bailey & Love's Short Practice of Surgery, 2018
Professor Sir Norman Williams, Professor P. Ronan O’Connell, Professor Andrew W. McCaskie
Segments of the deep veins are hypoplastic or aplastic and there may be an associated obstruction of the lymphatics. The condition must be distinguished from the Parkes-Weber syndrome, in which there are multiple arteriovenous fistulae causing venous hypertension, ulceration and high-output cardiac failure.
Interdisciplinary management of peripheral arteriovenous malformations: review of the literature and current proceedings
Published in Journal of Plastic Surgery and Hand Surgery, 2022
Felix F. Strübing, Stefan Porubsky, Amir K. Bigdeli, Volker J. Schmidt, Lena Krebs, U. Kneser, Maliha Sadick
Several genetic mutations have been identified to cause hereditary AVMs. A deficiency of SMAD4 has been shown to result in formation of AVMs in mice [3]. Furthermore, an association of mutations in the MAP2K1 gene has been demonstrated [4]. Mutations in the RASA1 gene may be associated with the Parkes–Weber Syndrome [5].