ALLMedicine™ Capillary Malformation Center
Research & Reviews 203 results
https://doi.org/10.1186/s13023-022-02379-6 10.1136/jnnp-2018-318538 10.1136/jmg.29.12.847 10.1186/1750-1172-4-16 10.1177/0883073816666736 10.1212/WNL.30.8.851 10.1002/ajmg.1320520411 10.1001/archderm.1997.03890480059008 10.1097/00006123-199605000-00004 10.1016/S0035-3787(07)91459-9 10.1136/archdischild-2017-313154 10.1055/s-2005-837581 10.1007/s00381-020-04729-w 10.1111/ced.12306 10.1007/s10048-013-0354-0 10.1002/ajmg.a.38177 10.1111/cge.13551 10.1016/j.pcl.2010.07.002 10.1111/j.1346-8138.2007.00218.x 10.1016/S0022-3476(96)70066-5 10.1016/S1071-9091(98)80003-X 10.1136/jmedgenet-2015-103290
Orphanet Journal of Rare Diseases; Legoupil S, Bessis D et. al.
Jun 22nd, 2022 - Neurofibromatosis type 2 (NF2) is characterized by bilateral vestibular schwannoma (VS) more often in adults but a severe paediatric form with multiple neurological tumours is also described. In this population, a early diagnosis is important to p...
https://doi.org/10.1111/ene.15452
European Journal of Neurology; Dompmartin A, van der Vleuten CJM et. al.
Jun 19th, 2022 - Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by clinical manifestations involving the brain, eye and skin. SWS is commonly caused by somatic mutations in G protein subunit Alpha Q (GNAQ). Subunit Alpha 11 (GNA11) mutation...
https://doi.org/10.1111/ijd.16266
International Journal of Dermatology; Xu JM, Li F et. al.
Jun 13th, 2022 - Disseminated bluish nodules with a protruded right eye: untypical presentation of capillary malformation-arteriovenous malformation (CM-AVM).|2022|Xu JM,Li F,Qu T,Jin HZ,|
https://doi.org/10.1007/s10456-022-09841-w 10.1056/NEJMicm1700538 10.1007/s11940-013-0253-6 10.1097/PRS.0000000000001868 10.1001/jamadermatol.2020.4226 10.1016/j.pediatrneurol.2016.10.010 10.1016/S0190-9622(87)80249-9 10.1124/pr.110.003038 10.1056/NEJMoa1213507 10.1038/jhg.2014.95 10.1136/bjophthalmol-2020-317287 10.1055/s-0037-1603515 10.1093/hmg/ddab144 10.1016/j.jid.2019.10.019 10.1074/jbc.M408846200 10.1038/s41587-020-0439-x 10.1186/s13059-014-0550-8 10.1093/bioinformatics/btz931 10.1038/sj.bjc.6601894 10.1006/bbrc.2001.5891 10.1016/j.jid.2015.11.027 10.1016/j.bbrc.2011.10.047 10.1074/jbc.RA118.005291 10.1016/j.bbrc.2005.03.174 10.1161/ATVBAHA.121.316651 10.1001/jamaophthalmol.2018.5141 10.1016/j.jmgm.2017.07.011 10.1016/j.lfs.2016.03.037 10.1001/jamadermatol.2018.4231 10.1016/j.ajhg.2019.09.010 10.1038/modpathol.2016.234
Angiogenesis Galeffi F, Snellings DA et. al.
Jun 1st, 2022 - Sturge-Weber syndrome (SWS) is a sporadic, congenital, neuro-cutaneous disorder characterized by a mosaic, capillary malformation. SWS and non-syndromic capillary malformations are both caused by a somatic activating mutation in GNAQ encoding the ...
https://doi.org/10.1111/pde.15001
Pediatric Dermatology; Guimaraes MJ, Gomes J et. al.
May 4th, 2022 - A 23-day-old boy with prenatal diagnosis of basilar artery aneurysm presented with multiple congenital red patches consistent with capillary malformations. Genetic testing confirmed the presence of a heterozygous pathogenic variant of the RASA1 ge...
Clinicaltrials.gov 6 results
https://clinicaltrials.gov/ct2/show/NCT04536740
Sep 3rd, 2020 - Port-wine stain (PWS) is a congenital capillary malformation characterized by ectatic capillaries and postcapillary venules located predominantly in the papillary and mid-reticular layers of the dermis. It has an incidence of 3-5/1000 newborns and...
https://clinicaltrials.gov/ct2/show/NCT01533376
Mar 21st, 2019 - Port-wine mark (PWM) represents a congenital capillary malformation,characterized by dilation and malformation of dermal capillaries that lack endothelial proliferation. It is frequently seen in the facial distribution of the trigeminal nerve. PWM...
https://clinicaltrials.gov/ct2/show/NCT02883023
Jun 27th, 2017 - Capillary malformations are congenital abnormalities of the capillaries in the skin. These abnormally developed blood vessels cause a red color of the skin (also known as 'port-wine stain'),often in combination with a cobble-stone like aspect of t...
https://clinicaltrials.gov/ct2/show/NCT02035319
Aug 25th, 2015 - Capillary malformations, specifically port wine stains, occur in one of every 12,000 live births (0.3% of newborns) with 90% on the face or neck. Pulsed dye laser therapy targeted at hemoglobin (i.e., 585 nm ± 5 nm) is commonly used to lessen the ...
https://clinicaltrials.gov/ct2/show/NCT01774916
Sep 1st, 2014 - Cutaneous Arteriovenous malformations (AVM's) rare congenital high-flow vascular malformations in which arteries and veins are directly connected through a complex web of abnormal arteries and veins instead of a normal capillary network. Arterial ...
News 10 results
https://www.mdedge.com/dermatology/article/240067/pediatrics/case-molecular-classification-vascular-anomalies-presented
Doug Brunk
May 13th, 2021 - Emerging data suggest that molecular classification of vascular anomalies can improve prognostication and treatment for babies born with these malformations, according to Beth Drolet, MD. “We now know that 75%-80% of vascular malformations have ge.
https://www.mdedge.com/dermatology/article/231489/pediatrics
Maria A. Leszczynska, MD, Emily Croce, NP et. al.
Nov 10th, 2020 - Capillary malformation-arteriovenous malformation syndrome Capillary Malformation-arteriovenous malformation syndrome (CM-AVM) is a rare vascular disorder characterized by the presence of capillary malformations with or without arteriovenous malfo.
https://www.mdedge.com/dermatology/article/217276/pediatrics/broadly-distributed-vascular-macules-pediatric-patient
Raagini Suresh Yedidi, BS, Jodie Raffi, BA et. al.
Feb 13th, 2020 - The Diagnosis: Capillary Malformation-Arteriovenous Malformation Syndrome Capillary malformation-arteriovenous malformation (CM-AVM) was suspected, and a sample of the patient's blood was sent for a diagnostic genetic workup. DNA sequencing evalua.
https://www.mdedge.com/dermatology/article/214529/melanoma/melanoma-situ-within-port-wine-stain
Sabrina Martin, MD, Stephanie Martin, MD et. al.
Dec 19th, 2019 - To the Editor: Port-wine stains (PWSs) are the most common type of vascular malformations. Patients rarely develop cancers in the overlying skin.
https://www.mdedge.com/familymedicine/article/197685/dermatology/vascular-stain-birthmark
MDedge Family Medicine; Kathryn Oppenlander, MD, Caleb Dickison, DO
Mar 28th, 2019 - The presence of the large red to purple, well-demarcated patches with a lateral predilection led the FP to diagnose a port-wine-stain. 1,2 Port-wine-stains are a type of capillary malformation that fall under the over-arching category of “simple va.