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Actas Dermo-sifiliograficas Jun 2017Sturge-Weber syndrome is a sporadic congenital neurocutaneous disorder caused by a somatic activating mutation in GNAQ; it affects 1 in every 20,000 to 50,000 newborns.... (Review)
Review
Sturge-Weber syndrome is a sporadic congenital neurocutaneous disorder caused by a somatic activating mutation in GNAQ; it affects 1 in every 20,000 to 50,000 newborns. It is characterized by a facial Port-wine stain, leptomeningeal angiomatosis, and glaucoma. Seizures are the most common neurological manifestation and typically present in the first months of life. Glaucoma may be present at birth or develop later. Neuroimaging studies show leptomeningeal angiomatosis, supporting diagnosis. Standard treatment for Sturge-Weber syndrome includes laser treatment for the Port-wine stain, anticonvulsants, and medical or surgical treatment for the glaucoma. Prognosis depends on the extent of leptomeningeal involvement and the severity of the glaucoma.
Topics: Anticonvulsants; Brain Damage, Chronic; Early Diagnosis; GTP-Binding Protein alpha Subunits, Gq-G11; Glaucoma; Humans; Lasers, Dye; Meninges; Neuroimaging; Port-Wine Stain; Seizures; Sturge-Weber Syndrome; Veins
PubMed: 28126187
DOI: 10.1016/j.ad.2016.09.022 -
JAMA Dermatology Jan 2021Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome involving the skin, brain, and eyes. Consensus recommendations for management are lacking. (Review)
Review
IMPORTANCE
Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome involving the skin, brain, and eyes. Consensus recommendations for management are lacking.
OBJECTIVE
To consolidate the current literature with expert opinion to make recommendations that will guide treatment and referral for patients with port-wine birthmarks (PWBs).
EVIDENCE REVIEW
In this consensus statement, 12 nationally peer-recognized experts in dermatology with experience treating patients with SWS were assembled. Key topics and questions were formulated for each group and included risk stratification, optimum treatment strategies, and recommendations regarding light-based therapies. A systematic PubMed search was performed of English-language articles published between December 1, 2008, and December 1, 2018, as well as other pertinent studies identified by the expert panel. Clinical practice guidelines were recommended.
FINDINGS
Treatment of PWBs is indicated to minimize the psychosocial impact and diminish nodularity and potentially tissue hypertrophy. Better outcomes may be attained if treatments are started at an earlier age. In the US, pulsed dye laser is the standard for all PWBs regardless of the lesion size, location, or color. When performed by experienced physicians, laser treatment can be safe for patients of all ages. The choice of using general anesthesia in young patients is a complex decision that must be considered on a case-by-case basis.
CONCLUSIONS AND RELEVANCE
These recommendations are intended to help guide clinical practice and decision-making for patients with SWS and those with isolated PWBs and may improve patient outcomes.
Topics: Clinical Decision-Making; Consensus; Dermatology; Humans; Lasers, Dye; Low-Level Light Therapy; Port-Wine Stain; Practice Guidelines as Topic; Sturge-Weber Syndrome; Treatment Outcome
PubMed: 33175124
DOI: 10.1001/jamadermatol.2020.4226 -
The Application of Clinical Genetics 2023Sturge-Weber syndrome (SWS) is a congenital, sporadic, and rare neurocutaneous disorder, characterized by the presence of a facial port-wine birthmark (PWB), glaucoma,... (Review)
Review
Sturge-Weber syndrome (SWS) is a congenital, sporadic, and rare neurocutaneous disorder, characterized by the presence of a facial port-wine birthmark (PWB), glaucoma, and neurological manifestations including leptomeningeal angiomatosis and seizures. It is caused by a postzygotic, somatic, gain-of-function variant of the gene, and more recently, the gene in association with distinctive clinical features. Neuroimaging can help identify and stratify patients at risk for significant complications allowing closer follow-up; although no presymptomatic treatment has been demonstrated to be effective to date, these patients could benefit from early treatment and/or supportive interventions. Choroid plexus (CP) thickness measurements in brain magnetic resonance imaging (MRI) have a high sensitivity and specificity for early and incipient changes in SWS. In contrast, the absence of pathologic findings makes it possible to rule out associated neurological involvement and leads to periodical observation, with new imaging studies only in cases of new clinical signs/symptoms. Periodic ophthalmological examination is also recommended every 3 months during the first year and yearly afterwards to monitor for glaucoma and choroidal hemangiomas. Treatment for SWS depends on the extent and areas that are affected. These include laser surgery for PWB, anticonvulsants in the case of brain involvement, with either seizures or abnormal EEG, and medical treatment or surgery for glaucoma. Sirolimus has been used in a limited number of patients and appears to be a safe and potentially effective treatment for cutaneous and extra-cutaneous features, however controlled clinical studies have not been carried out. Better knowledge of molecular pathways will help to develop future targeted treatments.
PubMed: 37124240
DOI: 10.2147/TACG.S363685 -
Pediatric Neurology Aug 2021Sturge-Weber syndrome (SWS) is a sporadic, neurocutaneous syndrome involving the skin, brain, and eyes. Because of the variability of the clinical manifestations and the...
BACKGROUND
Sturge-Weber syndrome (SWS) is a sporadic, neurocutaneous syndrome involving the skin, brain, and eyes. Because of the variability of the clinical manifestations and the lack of prospective studies, consensus recommendations for management and treatment of SWS have not been published.
OBJECTIVE
This article consolidates the current literature with expert opinion to make recommendations to guide the neuroimaging evaluation and the management of the neurological and ophthalmologic features of SWS.
METHODS
Thirteen national peer-recognized experts in neurology, radiology, and ophthalmology with experience treating patients with SWS were assembled. Key topics and questions were formulated for each group and included (1) risk stratification, (2) indications for referral, and (3) optimum treatment strategies. An extensive PubMed search was performed of English language articles published in 2008 to 2018, as well as recent studies identified by the expert panel. The panel made clinical practice recommendations.
CONCLUSIONS
Children with a high-risk facial port-wine birthmark (PWB) should be referred to a pediatric neurologist and a pediatric ophthalmologist for baseline evaluation and periodic follow-up. In newborns and infants with a high-risk PWB and no history of seizures or neurological symptoms, routine screening for brain involvement is not recommended, but brain imaging can be performed in select cases. Routine follow-up neuroimaging is not recommended in children with SWS and stable neurocognitive symptoms. The treatment of ophthalmologic complications, such as glaucoma, differs based on the age and clinical presentation of the patient. These recommendations will help facilitate coordinated care for patients with SWS and may improve patient outcomes.
Topics: Child; Child, Preschool; Congresses as Topic; Consensus; Glaucoma; Humans; Infant; Infant, Newborn; Neuroimaging; Neurology; Ophthalmology; Port-Wine Stain; Practice Guidelines as Topic; Seizures; Sturge-Weber Syndrome
PubMed: 34153815
DOI: 10.1016/j.pediatrneurol.2021.04.013 -
International Journal of Molecular... Oct 2022Port-wine stains (PWSs) are congenital vascular malformations that involve the skin and mucosa. To date, the mechanisms underlying the pathogenesis and progression of... (Review)
Review
Port-wine stains (PWSs) are congenital vascular malformations that involve the skin and mucosa. To date, the mechanisms underlying the pathogenesis and progression of PWSs are yet to be clearly elucidated. The potential reasons for dilated vessels are as follows: (1) somatic (R183Q) mutations that form enlarged capillary malformation-like vessels through angiopoietin-2, (2) decreased perivascular nerve elements, (3) the coexistence of Eph receptor B1 and ephrin B2, and (4) the deficiency of αSMA expression in pericytes. In addition, ERK, c-JNK, P70S6K, AKT, PI3K, and PKC are assumed to be involved in PWS development. Although pulsed-dye laser (PDL) remains the gold standard for treating PWSs, the recurrence rate is high. Topical drugs, including imiquimod, axitinib, and rapamycin, combined with PDL treatments, are expected to alter the recurrence rate and reduce the number of PDL sessions for PWSs. For the deep vascular plexus, photosensitizers or photothermal transduction agents encapsulated by nanocarriers conjugated to surface markers (CD133/CD166/VEGFR-2) possess a promising therapeutic potential in photodynamic therapy or photothermal therapy for PWSs. The pathogenesis, progression, and treatment of PWSs should be extensively investigated.
Topics: Humans; Port-Wine Stain; Ribosomal Protein S6 Kinases, 70-kDa; Vascular Endothelial Growth Factor Receptor-2; Angiopoietin-2; Imiquimod; Photosensitizing Agents; Ephrin-B2; Axitinib; Proto-Oncogene Proteins c-akt; Receptor, EphA1; Sirolimus; Phosphatidylinositol 3-Kinases; Treatment Outcome
PubMed: 36292993
DOI: 10.3390/ijms232012139 -
Journal of Clinical and Diagnostic... Feb 2017
PubMed: 28384923
DOI: 10.7860/JCDR/2017/22731.9378 -
Clinical, Cosmetic and Investigational... 2021Port-wine stain (PWS) is a congenital malformation that does not resolve spontaneously and can cause a physiological or psychological burden to the patients. At present,... (Review)
Review
INTRODUCTION
Port-wine stain (PWS) is a congenital malformation that does not resolve spontaneously and can cause a physiological or psychological burden to the patients. At present, most of the studies done on PWS are focused on the treatment rather than the quality of life and psychological effects of the disease.
MATERIAL AND METHODS
A comprehensive literature search was done in MEDLINE using PubMed database, Embase, and Cochrane. All observational studies were included in this review.
RESULTS
A total of 17 relevant articles with 2,135 PWS patients were included in this review. There were 36 measurement tools used to assess the quality of life and the psychological effects among PWS patients. The results showed that patients with facial PWS had a significant negative effect on their quality of life and had also suffered from psychological disabilities. The PWS lesion tends to worsen with age and may cause further adaptation problems towards the social environment, especially in children.
CONCLUSION
Early treatment, psychological assistance, and patient support are the key management in improving the quality of life of patients with PWS. Quality of life must be regularly assessed together with the improvement of treatment.
PubMed: 34188511
DOI: 10.2147/CCID.S315804 -
Clinical, Cosmetic and Investigational... 2015Port-wine stains are a type of capillary malformation affecting 0.3% to 0.5% of the population. Port-wine stains present at birth as pink to erythematous patches on the... (Review)
Review
Port-wine stains are a type of capillary malformation affecting 0.3% to 0.5% of the population. Port-wine stains present at birth as pink to erythematous patches on the skin and/or mucosa. Without treatment, the patches typically darken with age and may eventually develop nodular thickening or associated pyogenic granuloma. Laser and light treatments provide improvement through selective destruction of vasculature. A variety of vascular-selective lasers may be employed, with the pulsed dye laser being the most common and well studied. Early treatment produces more optimal results. Advances in imaging and laser treatment technologies demonstrate potential to further improve clinical outcomes.
PubMed: 25624768
DOI: 10.2147/CCID.S53118