Capillary malformation-arteriovenous malformation syndrome

被引：2
作者：
Galan-Gutierrez, M. [1 ]
Ruiz-Villaverde, R. [1 ]
机构：
[1] Complejo Hosp Jaen, Unidad Dermatol CMA, Jaen, Spain
来源：
ANALES DE PEDIATRIA | 2013年 / 79卷 / 06期
关键词：
RASopathies; Capillary malformation; RAS/Mitogen-activated protein kinase pathway; RASA1; MUTATIONS;
D O I：
10.1016/j.anpedi.2013.03.013
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
Capillary malformation-arteriovenous malformation syndrome is an autosonnal dominant condition in which multifocal capillary malformations and arteriovenous fistulas form in different organs. RASopathies include a set of common syndromes that have mutations on the Ras/MAPK pathway. We discuss the clinical implications and tests necessary for its diagnosis. (C) 2012 Asociacion Espanola de Pediatria. Published by Elsevier Espana, S.L. All rights reserved.
引用
收藏
页码：374 / 376
页数：3
相关论文
共 7 条
  • [1] Cordisco MR, 2005, DERMATOL PEDIAT LAT, V3, P247
  • [2] Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations
    Eerola, I
    Boon, LM
    Mulliken, JB
    Burrows, PE
    Dompmartin, A
    Watanabe, S
    Vanwijck, R
    Vikkula, M
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (06) : 1240 - 1249
  • [3] Hernandez-Martin A, 2011, Actas Dermo-Sifiliograficas, V102, P402, DOI [10.1016/j.ad.211.02.010, DOI 10.1016/J.AD.211.02.010]
  • [4] RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations
    Hershkovitz, D.
    Bercovich, D.
    Sprecher, E.
    Lapidot, M.
    [J]. BRITISH JOURNAL OF DERMATOLOGY, 2008, 158 (05) : 1035 - 1040
  • [5] RASA1 maintains the lymphatic vasculature in a quiescent functional state in mice
    Lapinski, Philip E.
    Kwon, Sunkuk
    Lubeck, Beth A.
    Wilkinson, John E.
    Srinivasan, R. Sathish
    Sevick-Muraca, Eva
    King, Philip D.
    [J]. JOURNAL OF CLINICAL INVESTIGATION, 2012, 122 (02) : 733 - 747
  • [6] Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway:: genotype-phenotype relationships and overlap with Costello syndrome
    Nava, Caroline
    Hanna, Nadine
    Michot, Caroline
    Pereira, Sabrina
    Pouvreau, Nathalie
    Niihori, Tetsuya
    Aoki, Yoko
    Matsubara, Yoichi
    Arveiler, Benoit
    Lacombe, Didier
    Pasmant, Eric
    Parfait, Beatrice
    Baumann, Clarisse
    Heron, Delphine
    Sigaudy, Sabine
    Toutain, Annick
    Rio, Marlene
    Goldenberg, Alice
    Leheup, Bruno
    Verloes, Alain
    Cave, Helene
    [J]. JOURNAL OF MEDICAL GENETICS, 2007, 44 (12) : 763 - 771
  • [7] Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations
    Revencu, Nicole
    Boon, Laurence M.
    Mulliken, John B.
    Eniolras, Odile
    Cordisco, Maria Rosa
    Burrows, Patricia E.
    Clapuyt, Philippe
    Hammer, Frank
    Dubois, Josee
    Baselga, Eulalia
    Brancati, Francesco
    Carder, Robin
    Quintal, Jose Miguel Ceballos
    Dallapiccola, Bruno
    Fischer, Gayle
    Frieden, Ilona J.
    Garzon, Maria
    Harper, John
    Johnson-Patel, Jennifer
    Labreze, Christine
    Martorell, Loreto
    Paltiel, Harriet J.
    Pohl, Annette
    Prendiville, Julie
    Quere, Isabelle
    Siegel, Dawn H.
    Valente, Enza Maria
    Van Hagen, Annet
    Van Hest, Liselot
    Vaux, Keith K.
    Vicente, Asuncion
    Weibel, Lisa
    Chitayat, David
    Vikkulal, Miikka
    [J]. HUMAN MUTATION, 2008, 29 (07) : 959 - 965
1