Researchers Pinpoint Cause of Port-Wine Stain Birthmarks

Single, random change to gene during fetal development causes birthmarks and the more serious Sturge-Weber syndrome Source: HealthDay Related MedlinePlus Pages: Birthmarks, Genes and Gene Therapy
Source: MedlinePlus Health News - Category: Consumer Health News Source Type: news

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Conclusions: SWS affects approximately 0.19/100,000/year in Olmsted County. Early diagnosis, intervention, lifelong follow-up, and multidisciplinary approach should be used to optimize systemic and ocular outcomes. PMID: 32233696 [PubMed - as supplied by publisher]
Source: Ophthalmic Genetics - Category: Opthalmology Tags: Ophthalmic Genet Source Type: research
CONCLUSIONS: Patients with malformations of cortical development have a higher risk of seizure recurrence, and these malformations comprised the main etiology in the reoperation series. Failure of an initial hemispherotomy usually occurs due to incomplete disconnection and needs to be extensively assessed. Outcomes of reoperation are most often favorable, with acceptable complication rates. PMID: 32234979 [PubMed - in process]
Source: Neurosurgical Focus - Category: Neurosurgery Authors: Tags: Neurosurg Focus Source Type: research
CONCLUSION: Our results supported the potential of AATs using A1R agonist to be a novel therapy for reducing life burden from patients with refractory epilepsy in SWS, with application to epileptic generation region but not propagation region. PMID: 32208337 [PubMed - as supplied by publisher]
Source: Epilepsy and Behaviour - Category: Neurology Authors: Tags: Epilepsy Behav Source Type: research
Sturge-Weber syndrome (SWS) is a neurocutaneous disorder associated with epilepsy, glaucoma, cognitive impairments, and a port-wine birthmark. Although individuals with SWS are vulnerable to known risk factors for suicide, including chronic illness and physical differences (port-wine birthmark), frequency of suicidal ideation and attempts in youth and adults with SWS is unknown.
Source: Pediatric Neurology - Category: Neurology Authors: Tags: Research Paper Source Type: research
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Source: European Journal of Paediatric Neurology - Category: Neurology Authors: Tags: Eur J Paediatr Neurol Source Type: research
Patients with Sturge-Weber syndrome (SWS) are susceptible to ocular complications, and among them, glaucoma is one of the most frequent forms. In current study, we utilized multiplex human cytokine antibody array to simultaneously measure the concentration of 40 cytokines in aqueous humor (AH) of patients with SWS-induced glaucoma (SG), or from patients with senile cataract as controls. Compared with the control group, levels of interleukin (IL)-12p40, macrophage inflammatory protein (MIP)-1d, tumor necrosis factor-alpha (TNF-a), IL-5, IL-7, interleukin-6 receptor (IL-6R), and B lymphocyte chemoattractant (BLC) in AH were ...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
AbstractCerebrofacial venous metameric syndrome (CVMS) is a complex craniofacial vascular malformation disorder in which patients have a constellation of venous vascular malformations affecting soft tissues, bone, dura, and neural structures including the eye and brain. It is hypothesized that a somatic mutation responsible for the venous abnormalities occurred prior to migration of the neural crest cells, and because of this, facial, osseous, and cerebral involvement typically follows a segmental or “metameric” distribution. The most commonly recognized form of CVMS is Sturge-Weber syndrome. However, a wide sp...
Source: Neuroradiology - Category: Radiology Source Type: research
Authors: Saraf AS, Babhulkar SS, Joge VP PMID: 31896875 [PubMed]
Source: Indian Journal of Psychiatry - Category: Psychiatry Tags: Indian J Psychiatry Source Type: research
Sturge-Weber angiomatosis is a rare nonhereditary developmental condition, characterized by hamartomatous vascular proliferation involving the tissues of the brain and face. Its diagnosis can be established by the identification of the following criteria: port-wine stains, leptomeningeal angiomas, skull imaging with presence of gyriform calcifications in "tram lines," and intraoral involvement resulting in hypervascular changes. The purpose of this study is to perform a case report of Sturge-Weber angiomatosis, attended at a stomatology service.
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - Category: ENT & OMF Authors: Source Type: research
GNA11 and GNAQ are highly homologous genes encoding different G α subunits of the Gαq subfamily of heterotrimeric G-proteins. GNAQ mutation mosaicism has previously been found to cause Sturge-Weber syndrome (SWS) and isolated capillary malformations(Shirley et al., 2013). We recently described post-zygotic activating mutations in GNA11 or GNAQ as causes of Pha komatosis pigmentovascularis (PPV)(Thomas et al., 2016), a group of conditions defined by the presence of both pigmentary and vascular birthmarks(Happle, 2005, Ota, 1947), and GNAQ mosaicism as a cause of Extensive or atypical dermal melanocytosis (EDM)(Thomas et al., 2016).
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Letters to the Editor Source Type: research
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