Genetic Variants Associated with Port-Wine Stains.

Autor: Alice Frigerio, Karol Wright, Whitney Wooderchak-Donahue, Oon T Tan, Rebecca Margraf, David A Stevenson, J Fredrik Grimmer, Pinar Bayrak-Toydemir

Publikováno v: PLoS ONE, Vol 10, Iss 7, p e0133158 (2015)

Port-wine stains (PWS) are capillary malformations, typically located in the dermis of the head and neck, affecting 0.3% of the population. Current theories suggest that port-wine stains are caused by somatic mutations that disrupt vascular developme

Externí odkaz: https://doaj.org/article/9d44737acfd34b0d9148837db4481c6c

Case 36-2015

Autor: Oon T. Tan, Peter M. Sadow, Konstantina M. Stankovic

Publikováno v: New England Journal of Medicine. 373:2070-2077

A 27-year-old woman presented with a pruritic lesion of the left ear canal, with recurrent bleeding. The lesion had a cobblestone appearance and several prominent vessels. A diagnostic procedure was performed.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b76e69b0a105a37c9b6d32675cde4383
https://doi.org/10.1056/nejmcpc1410941

RASA1Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation

Autor: Marc Abramowicz, Felicity Collins, Philippe Clapuyt, Christine Léauté-Labrèze, Brid O'Donnell, Julie Désir, Eulalia Baselga, María Antonia González-Enseñat, Antonella Mendola, Nicola Brunetti-Pierri, Yim Dwight, Nicole Revencu, Victoria R. Barrio, David J.E. Lord, Lesley C. Adès, David J. Amor, Mariarosaria Cozzolino, Orli Wargon, Shelagh Joss, Frank Hammer, Susan J. Bayliss, Josée Dubois, Didier Bessis, María del Carmen Boente, Leona Fishman, Wendy K. Chung, Miikka Vikkula, Oon T. Tan, Yolanda Gilaberte, Laurence M. Boon, Cheryl Cytrynbaum, Juliette Mazereeuw-Hautier, Carol A. Gardiner, Patricia E. Burrows, Sarah A. Sandaradura, Fred Ghali, Maria R. Cordisco, Alan D. Irvine, Asunción Vicente, Catheline Vilain, John B. Mulliken, Aicha Salhi, Francine Blei, Loreto Martorell, Anne Dompmartin, Janine Smith, Ashley Wilson, S. Syed, Sarah L. Chamlin, Ana Martín-Santiago, Marie Ange Delrue, Reed E. Pyeritz

Publikováno v: HUMAN MUTATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal-dominant disorder, caused by heterozygous RASA1 mutations, and manifesting multifocal CMs and high risk for fast-flow lesions. A limited number of patients have been reported,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14c5b61af53f0bf9a3fc6aa8afac2f2e
https://doi.org/10.1002/humu.22431

CASE RECORDS of the MASSACHUSETTS GENERAL HOSPITAL. Case 36-2015. A 27-Year-Old Woman with a Lesion of the Ear Canal

Autor: Konstantina M, Stankovic, Oon T, Tan, Peter M, Sadow

Publikováno v: The New England journal of medicine. 373(21)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c4879f9c4aa6b01e280dfbb4a196a21f
https://pubmed.ncbi.nlm.nih.gov/26581000

Quantitative three-dimensional assessment of port-wine stain clearance after laser treatments

Autor: Alice, Frigerio, Prabhat K, Bhama, Oon T, Tan

Publikováno v: Lasers in surgery and medicine. 46(3)

Outcomes analysis of laser treatment for port-wine stains has been hampered by the lack of an objective measure of surface area and volume; moreover, treatment success is often gauged by clinician subjective assessment. Three-dimensional (3D) surface

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::4cf9448f545eda9dcd580b0044158ace
https://pubmed.ncbi.nlm.nih.gov/24155123