User menu

Accès à distance ? S'identifier sur le proxy UCLouvain

Heredity of port-wine stains: investigation of families without a RASA1 mutation.

Primary tabs

download
  • Open access
  • PDF
  • 496.88 K
Troilius Rubin, Agneta Lauritzen, Edgar Ljunggren, Bo Revencu, Nicole [UCL] Vikkula, Miikka [UCL] Svensson, Åke

Background: The prevalence of capillary malformations, also known as port-wine stains (PWS), is 0.3%. Familial segregation can occur. The capillary malformation-arteriovenous malformation (CM-AVM) phenotype is caused by mutations in the RASA1 gene. In PWS familial cases, the inheritance is considered to be autosomal dominant with variable penetrance. Objective: Investigation of the heredity of PWS among patients who attended the vascular anomaly section at the department of dermatology in Malmoe, Southern Sweden, between 1993-2004 and to study the involvement of the RASA1 gene in patients with a positive family history of PWS. Subjects and methods: A total of 254 patients were examined and given a questionnaire regarding family history of PWS. The first group of 175 patients (109 females and 66 males) reported a negative family history. The other group of 65 patients (46 females and 19 males) reported a positive family history (50% parents or brothers and sisters). Results: The heredity of PWS was 27 % (65/240). Twenty-one patients with a positive family history and relatives had no CM-AVM phenotype for mutations in the RASA1 gene. Conclusion: PWS may have a stronger heredity component than earlier reported and inheritance should be considered when counselling a patient. RASA1 mutations do not explain the PWS in our patients.

Document type Article de périodique (Journal article) – Article de recherche
Access type Accès libre
Publication date 2015
Language Anglais
Journal information "Journal of Cosmetic and Laser Therapy" - Vol. 17, no.4, p. 204-208 (2015)
Peer reviewed yes
Publisher Taylor & Francis Ltd. ((United Kingdom) London )
issn 1476-4172
e-issn 1476-4180
Publication status Publié
Affiliations UCL - SSS/DDUV - Institut de Duve
UCL - (SLuc) Centre de génétique médicale UCL
UCL - (SLuc) Centre de malformations vasculaires congénitales
MESH Subject Adolescent ; Mutation ; Port-Wine Stain ; Retrospective Studies ; Young Adult ; p120 GTPase Activating Protein ; Adult ; Child ; Child, Preschool ; Female ; Genetic Predisposition to Disease ; Humans ; Male ; Middle Aged
Keywords RASA1 gene ; Capillary malformation ; Congenital ; Heredity ; Port-wine stain
Links
  1. Jacobs AH, Pediatrics, 58, 218 (1976)
  2. Barsky Sanford H., Rosen Seymour, Geer Daniel E., Noe Joel M., The Nature and Evolution of Port Wine Stains: A Computer-assisted Study, 10.1111/1523-1747.ep12535052
  3. Smoller Bruce R., Port-wine Stains : A Disease of Altered Neural Modulation of Blood Vessels?, 10.1001/archderm.1986.01660140067019
  4. Rydh Malin, Malm Mats, Jernbeck Jan, Dalsgaard Carl-Johan, Ectatic Blood Vessels in Port-Wine Stains Lack Innervation : Possible Role in Pathogenesis, 10.1097/00006534-199103000-00003
  5. Osburn Kevin, Schosser Robert H., Everett Mark Allen, Congenital pigmented and vascular lesions in newborn infants, 10.1016/s0190-9622(87)70102-9
  6. MILLS C.M., LANIGAN S.W., HUGHES J., ANSTEY A.V., Demographic study of port wine stain patients attending a laser clinic: family history, prevalence of naevus anaemicus and results of prior treatment, 10.1111/j.1365-2230.1997.tb01053.x
  7. van der Horst C.M.A.M., van Eijk T.G.J., de Borgie C.A.J.M., Koster P.H.L., Struycken P.M., Strackee S.D., Hereditary Port-wine Stains, Do They Exist?, 10.1007/s101030050090
  8. Troilius Agneta, Wrangsjö Björn, Ljunggren Bo, Patients with Port-Wine Stains and Their Psychosocial Reactions After Photothermolytic Treatment : , 10.1046/j.1524-4725.2000.09204.x
  9. Eerola Iiro, Boon Laurence M, Watanabe Shoji, Grynberg Henri, Mulliken John B, Vikkula Miikka, Locus for susceptibility for familial capillary malformation (‘port-wine stain’) maps to 5q, 10.1038/sj.ejhg.5200817
  10. Eerola Iiro, Boon Laurence M., Mulliken John B., Burrows Patricia E., Dompmartin Anne, Watanabe Shoji, Vanwijck Romain, Vikkula Miikka, Capillary Malformation–Arteriovenous Malformation, a New Clinical and Genetic Disorder Caused by RASA1 Mutations, 10.1086/379793
  11. Breugem Corstiaan C., Alders Marielle, Salieb-Beugelaar Georgette B., Mannens Marcel M., Van Der Horst Chantal M., Hennekam Raoul C., A locus for hereditary capillary malformations mapped on chromosome 5q, 10.1007/s00439-002-0700-z
  12. Boon Laurence M, Mulliken John B, Vikkula Miikka, RASA1: variable phenotype with capillary and arteriovenous malformations, 10.1016/j.gde.2005.03.004
  13. Klapman Marvin H., Yao Janis F., Thickening and nodules in port-wine stains, 10.1067/mjd.2001.111353
  14. Sanchez-Carpintero Ignacio, Mihm Martin C, Mizeracki Adam, Waner Milton, North Paula E, Epithelial and mesenchymal hamartomatous changes in a mature port-wine stain: morphologic evidence for a multiple germ layer field defect, 10.1016/j.jaad.2003.04.002
  15. Enjolras O, Adv Dermatol, 13, 375 (1997)
  16. Vikkula Miikka, Boon Laurence M, Iii Kermit L.Carraway, Calvert Jennifer T, Diamonti A.John, Goumnerov Boyan, Pasyk Krystyna A, Marchuk Douglas A, Warman Matthew L, Cantley Lewis C, Mulliken John B, Olsen Bjorn R, Vascular Dysmorphogenesis Caused by an Activating Mutation in the Receptor Tyrosine Kinase TIE2, 10.1016/s0092-8674(00)81814-0
  17. Limaye Nisha, Wouters Vinciane, Uebelhoer Melanie, Tuominen Marjut, Wirkkala Riikka, Mulliken John B, Eklund Lauri, Boon Laurence M, Vikkula Miikka, Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations, 10.1038/ng.272
  18. Brouillard Pascal, Boon Laurence M., Mulliken John B., Enjolras Odile, Ghassibé Michella, Warman Matthew L., Tan O.T., Olsen Bjorn R., Vikkula Miikka, Mutations in a Novel Factor, Glomulin, Are Responsible for Glomuvenous Malformations (“Glomangiomas”), 10.1086/339492
  19. Thiex R., Mulliken J. B., Revencu N., Boon L. M., Burrows P. E., Cordisco M., Dwight Y., Smith E. R., Vikkula M., Orbach D. B., A Novel Association between RASA1 Mutations and Spinal Arteriovenous Anomalies, 10.3174/ajnr.a1907
  20. Revencu Nicole, Boon Laurence M., Mulliken John B., Enjolras Odile, Cordisco Maria Rosa, Burrows Patricia E., Clapuyt Philippe, Hammer Frank, Dubois Josée, Baselga Eulalia, Brancati Francesco, Carder Robin, Quintal José Miguel Ceballos, Dallapiccola Bruno, Fischer Gayle, Frieden Ilona J., Garzon Maria, Harper John, Johnson-Patel Jennifer, Labrèze 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, Vikkula Miikka, Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations, 10.1002/humu.20746
Bibliographic reference Troilius Rubin, Agneta ; Lauritzen, Edgar ; Ljunggren, Bo ; Revencu, Nicole ; Vikkula, Miikka ; et. al. Heredity of port-wine stains: investigation of families without a RASA1 mutation.. In: Journal of Cosmetic and Laser Therapy, Vol. 17, no.4, p. 204-208 (2015)
Permanent URL http://hdl.handle.net/2078.1/175995