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

Troilius, Agneta LU ; Lauritzen, Edgar; Ljunggren, Bo LU ; Revencu, Nicole; Vikkula, Mikka and Svensson, Åke LU (2015) In Journal of Cosmetic & Laser Therapy 17(4). p.204-208
Abstract
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 and 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... (More)
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 and 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 it was reported earlier and inheritance should be considered when counseling a patient. RASA1 mutations do not explain the PWS in our patients. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
gene, RASA1, port-wine stain, heredity, congenital, capillary malformation
in
Journal of Cosmetic & Laser Therapy
volume
17
issue
4
pages
204 - 208
publisher
Informa Healthcare
external identifiers
  • wos:000360542600008
  • scopus:84938583325
ISSN
1476-4172
DOI
10.3109/14764172.2015.1007060
language
English
LU publication?
yes
id
aecb4be0-ea98-4ef4-bebc-6136b7c63186 (old id 7969200)
date added to LUP
2015-10-01 07:37:28
date last changed
2017-01-01 04:14:10
@article{aecb4be0-ea98-4ef4-bebc-6136b7c63186,
  abstract     = {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 and 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 it was reported earlier and inheritance should be considered when counseling a patient. RASA1 mutations do not explain the PWS in our patients.},
  author       = {Troilius, Agneta and Lauritzen, Edgar and Ljunggren, Bo and Revencu, Nicole and Vikkula, Mikka and Svensson, Åke},
  issn         = {1476-4172},
  keyword      = {gene,RASA1,port-wine stain,heredity,congenital,capillary malformation},
  language     = {eng},
  number       = {4},
  pages        = {204--208},
  publisher    = {Informa Healthcare},
  series       = {Journal of Cosmetic & Laser Therapy},
  title        = {Heredity of port-wine stains: Investigation of families without a RASA1 mutation},
  url          = {http://dx.doi.org/10.3109/14764172.2015.1007060},
  volume       = {17},
  year         = {2015},
}