Dataset Information

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

ABSTRACT: 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.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.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).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.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.

SUBMITTER: Troilius Rubin A

PROVIDER: S-EPMC4975081 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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

Troilius Rubin Agneta A Lauritzen Edgar E Ljunggren Bo B Revencu Nicole N Vikkula Mikka M Svensson Åke Å

Journal of cosmetic and laser therapy : official publication of the European Society for Laser Dermatology 20150312 4

<h4>Background</h4>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.<h4>Objective</h4>Investigation of the heredity of PWS among patients who attended the vascular anomaly section at the Department of Dermatol ...[more]

PMID: 25602354

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Project description:The Sturge-Weber syndrome is a sporadic congenital neurocutaneous disorder characterized by a port-wine stain affecting the skin in the distribution of the ophthalmic branch of the trigeminal nerve, abnormal capillary venous vessels in the leptomeninges of the brain and choroid, glaucoma, seizures, stroke, and intellectual disability. It has been hypothesized that somatic mosaic mutations disrupting vascular development cause both the Sturge-Weber syndrome and port-wine stains, and the severity and extent of presentation are determined by the developmental time point at which the mutations occurred. To date, no such mutation has been identified.We performed whole-genome sequencing of DNA from paired samples of visibly affected and normal tissue from 3 persons with the Sturge-Weber syndrome. We tested for the presence of a somatic mosaic mutation in 97 samples from 50 persons with the Sturge-Weber syndrome, a port-wine stain, or neither (controls), using amplicon sequencing and SNaPshot assays, and investigated the effects of the mutation on downstream signaling, using phosphorylation-specific antibodies for relevant effectors and a luciferase reporter assay.We identified a nonsynonymous single-nucleotide variant (c.548G?A, p.Arg183Gln) in GNAQ in samples of affected tissue from 88% of the participants (23 of 26) with the Sturge-Weber syndrome and from 92% of the participants (12 of 13) with apparently nonsyndromic port-wine stains, but not in any of the samples of affected tissue from 4 participants with an unrelated cerebrovascular malformation or in any of the samples from the 6 controls. The prevalence of the mutant allele in affected tissues ranged from 1.0 to 18.1%. Extracellular signal-regulated kinase activity was modestly increased during transgenic expression of mutant G?q.The Sturge-Weber syndrome and port-wine stains are caused by a somatic activating mutation in GNAQ. This finding confirms a long-standing hypothesis. (Funded by the National Institutes of Health and Hunter's Dream for a Cure Foundation.).

Project description:Background and objectivesPort wine birthmark, also known as port wine stain (PWS) is a skin discoloration characterized by red/purple patches caused by vascular malformation. PWS is typically treated by using lasers to destroy abnormal blood vessels. The laser heating facilitates selective photothermolysis of the vessels and attenuates quickly in the tissue due to high optical scattering. Therefore, residual abnormal capillaries deep in the tissue survive and often lead to the resurgence of PWS. Ultrasound (US) has also been proposed to treat PWS, however, it is nonselective with respect to the vasculature but penetrates deeper into the tissue. We aim to study the feasibility of a hybrid PWS treatment modality combining the advantages of both modalities.Materials and methodsIn this manuscript, we propose a photoacoustic (PA) guided US focusing methodology for PWS treatment which combines the optical contrast-based selectivity with US penetration to focus the US energy onto the vasculature. The PA signals collected by the transducers, when time-reversed, amplified, and transmitted, converge onto the PWS, thus minimally affecting the neighboring tissue. We performed two- and three-dimensional simulations that mimic realistic transducers and medium properties in this proof of concept study.ResultsThe time-reversed PA signals when transmitted from the transducers converged onto the vasculature, as expected, thus reducing the heating of the neighboring tissue. We observed that while the US focus is indeed affected due to experimental factors such as limited-view, large detector separation and finite detection bandwidth, and so forth, the US did focus completely or partially onto the vasculature demonstrating the feasibility of the proposed methodology.ConclusionThe results demonstrate the potential of the proposed methodology for PWS treatment. This treatment method can destroy the deeper capillaries while minimally heating the neighboring tissue, thus reducing the chances of the resurgence of PWS and as well as cosmetic scarring.

Project description:BackgroundA plethora of outcome measurement instruments (OMIs) are being used in port wine stain (PWS) studies. It is currently unclear how valid, responsive, and reliable these are.ObjectivesThe aim of this systematic review was to appraise the content validity and other measurement properties of OMIs for PWS treatment to identify the most appropriate instruments and future research priorities.MethodsThis study was performed using the updated Consensus-Based Standards for the Selection of Health Measurement Instruments (COSMIN) methodology and adhered to PRISMA guidelines. Comprehensive searches in Medline and Embase were performed. Studies in which an OMI for PWS patients was developed or its measurement properties were evaluated were included. Two investigators independently extracted data and assessed the quality of included studies and instruments to perform qualitative synthesis of the evidence.ResultsIn total, 1,034 articles were screened, and 77 full-text articles were reviewed. A total of 8 studies were included that reported on 6 physician-reported OMIs of clinical improvement and 6 parent- or patient-reported OMIs of life impact, of which 3 for health-related quality of life and 1 for perceived stigmatization. Overall, the quality of OMI development was inadequate (63%) or doubtful (37%). Each instrument has undergone a very limited evaluation in PWS patients. No content validity studies were performed. The quality of evidence for content validity was very low (78%), low (15%), or moderate (7%), with sufficient comprehensibility, mostly sufficient comprehensiveness, and mixed relevance. No studies on responsiveness, minimal important change, and cross-cultural validity were retrieved. There was moderate- to very low-quality evidence for sufficient inter-rater reliability for some clinical PWS OMIs. Internal consistency and measurement error were indeterminate in all studies.ConclusionsThere was insufficient evidence to properly guide outcome selection. Additional assessment of the measurement properties of OMIs is needed, preferentially guided by a core domain set tailored to PWS.

Dataset Information

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

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

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