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
Sturge-Weber syndrome (SWS) is primarily diagnosed in pediatric population, but clinical presentation in late adulthood is rarely reported. Evolution of radiological findings in the adulthood variant of SWS wi...
CONCLUSIONS: Both AGV implant and trabeculectomy appear to be safe and efficacious in controlling glaucoma secondary to SWS, although the potential for serious complications such as choroidal detachment must be anticipated when planning surgeries in patient with SWS, and the authors recommend the maintenance of a stable IOP during and following the surgery to avoid such complications. PMID: 32912851 [PubMed - as supplied by publisher]
Klippel-Trenaunay syndrome (KTS) is characterized by a triad of port wine stains, venous malformations, and unilateral bone and/or tissue hypertrophy. Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome of a classical triad of capillary malformations, ipsilateral leptomeningeal angiomatosis, and ocular involvement. The coexistence of KTS and SWS is rare, and only a few cases have been reported. Here, we describe a combination of KTS and SWS and report a case of a 27-year-old male patient, diagnosed with interictal dysphoric disorder, epilepsy, and mild intellectual disability.
Condition: Sturge-Weber Syndrome Interventions: Diagnostic Test: Brain magnetic resonance imaging; Behavioral: Neuro-psychology testing Sponsors: Wayne State University; National Institutes of Health (NIH) Recruiting
Sturge-Weber syndrome (Online Mendelian Inheritance in Man #185300) is a capillary malformation condition (Bichsel and Bischoff, 2019, Comi, 2015). Affected regions include the skin (typically with facial cutaneous vascular malformations called port-wine birthmarks), brain (often resulting in seizures, intellectual disability, and recurrent stroke-like episodes), and eye (often causing glaucoma). We (Shirley et al., 2013) and others (Frigerio et al., 2015, Nakashima et al., 2014) reported that 90% of individuals with SWS or nonsyndromic PWB have a mosaic, activating mutation in GNAQ, encoding G protein subunit alpha q (G αq).
BACKGROUND: Sturge-Weber syndrome is a neurocutaneous disorder associated with epilepsy, glaucoma, cognitive impairments, and a port-wine birthmark. Although individuals with Sturge-Weber syndrome are vulnerable to known risk factors for suicide, including...
Sturge-Weber syndrome (SWS) is a rare, sporadic neurocutaneous disorder, primarily characterized by port-wine stain (PWS) over the ophthalmic division of the trigeminal nerve (V1) territory (hallmark feature) and glaucoma (in 30 –60% of cases). Other ocular manifestations include episcleral involvement of the PWS, choroidal vascular malformations, and iris heterochromia. Two previous reports also associated ectopia lentis concomitantly among these cases. However, here we report spherophakia as a novel ophthalmological fin ding in SWS. A 56-year-old female previously diagnosed with SWS presented to the outpatient clin...
Condition: Sturge-Weber Syndrome Intervention: Drug: Cannabidiol Sponsors: Anne Comi, MD; GW Pharmaceuticals Ltd.; Faneca 66 Foundation Recruiting
Postzygotic mosaic variants in G-proteins are associated with isolated capillary malformations, Sturge-Weber syndrome (SWS) and phakomatosis pigmentovascularis. As part of an ongoing multi-institutional study of vascular malformations and overgrowth, we identified 18 patients with alterations in GNAQ and closely related GNA11, and sought to better characterize the phenotype associated with mosaic G-protein variants. DNA was extracted from affected tissue and submitted for targeted sequencing using a customized panel enriched for oncogenic pathway genes.