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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 -
Pediatrics in Review Sep 2022Sturge-Weber syndrome (SWS) is a neurocutaneous disorder that classically presents with a triad of vascular anomalies affecting the skin, eyes, and brain. Previously,... (Review)
Review
Sturge-Weber syndrome (SWS) is a neurocutaneous disorder that classically presents with a triad of vascular anomalies affecting the skin, eyes, and brain. Previously, the trigeminal nerve distribution of a port-wine birthmark (PWB) of the face was used to identify risk of SWS. However, recent evidence has demonstrated that PWBs are vascular, not neurologic, in embryologic origin, and facial PWBs at highest risk for the brain involvement of SWS involve the forehead location. Furthermore, a PWB involving the upper or lower eyelid carries a risk of glaucoma, which requires lifelong monitoring. The gold standard of treatment for PWB is the pulsed dye laser, which has many advantages when started as early as possible in infancy. In this review, we discuss the locations of facial PWBs at risk for neurologic and ophthalmologic complications, the differential diagnosis of facial vascular birthmarks, recommendations for patient referral(s) when needed, and the advantages of early laser therapy when desired for the PWB. We also provide additional resources for pediatricians to support patients and their families.
Topics: Brain; Glaucoma; Humans; Port-Wine Stain; Risk Assessment; Sturge-Weber Syndrome
PubMed: 36045161
DOI: 10.1542/pir.2021-005437 -
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 -
Facial Plastic Surgery Clinics of North... Feb 2024Vascular lesions impact up to 5% of children and range in clinical impact from minor cutaneous aberrations to large masses impacting both form and function. Vascular... (Review)
Review
Vascular lesions impact up to 5% of children and range in clinical impact from minor cutaneous aberrations to large masses impacting both form and function. Vascular lesions may be characterized as tumors or malformations. Establishing a clear diagnosis is imperative to understanding the natural history of a vascular lesion and developing a treatment plan. Medical, surgical, intralesional, and laser therapy are all effective and indicated on a case-by-case basis. There are a number of important surgical considerations for operative management of these lesions.
Topics: Child; Humans; Hemangioma; Port-Wine Stain; Laser Therapy; Skin; Low-Level Light Therapy
PubMed: 37981409
DOI: 10.1016/j.fsc.2023.09.003 -
Facial Plastic Surgery Clinics of North... Nov 2016Classification of vascular lesions based of off the biological behavior has greatly facilitated more accurate diagnoses, optimally defined treatment plans, and better... (Review)
Review
Classification of vascular lesions based of off the biological behavior has greatly facilitated more accurate diagnoses, optimally defined treatment plans, and better outcomes. Treatment of vascular lesions has taken a more conservative surgical approach with reliance on select medical treatment options, which has greatly reduced morbidity and mortality resulting from extensive surgery. A multidisciplinary approach involving multiple surgical and pediatric subspecialties has led to advancement in both understanding and ideal treatment strategies of these lesions.
Topics: Adrenergic beta-Antagonists; Combined Modality Therapy; Hemangioma; Humans; Port-Wine Stain; Propranolol; Plastic Surgery Procedures; Skin Neoplasms; Vascular Malformations
PubMed: 27712821
DOI: 10.1016/j.fsc.2016.06.009 -
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 -
Brain and Nerve = Shinkei Kenkyu No... Apr 2019The cutaneous findings associated with Sturge-Weber syndrome (SWS) are characterized by a port-wine stain at the site of the first branching of the trigeminal nerve....
The cutaneous findings associated with Sturge-Weber syndrome (SWS) are characterized by a port-wine stain at the site of the first branching of the trigeminal nerve. Recently, a new vascular classification for the port-wine stain is proposed in association with SWS. There is no consensus regarding the screening of SWS, but suspected cases of SWS are recommended for early referral to ophthalmologists. Magnetic resonance imaging (MRI) of the brain in infants, when they are younger than 6 months, leaves the possibility of false-negatives of SWS.
Topics: Brain; Humans; Infant; Magnetic Resonance Imaging; Port-Wine Stain; Skin; Sturge-Weber Syndrome; Trigeminal Nerve
PubMed: 30988226
DOI: 10.11477/mf.1416201281 -
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 Cosmetic Dermatology Jul 2021Port-wine stain (PWS) is a benign capillary malformation that most commonly occurs in the head and neck. It is present at birth and progresses over time. It is formed by... (Review)
Review
Port-wine stain (PWS) is a benign capillary malformation that most commonly occurs in the head and neck. It is present at birth and progresses over time. It is formed by progressive dilatation of post-capillary venules and is associated with hypertrophy and nodularity with increasing age, leading to cosmetic disfigurement and psychological aggravation. It is caused by genetic mosaicism in GNAQ and GNA11 genes. Histopathology is the gold standard for assessment of PWS but it is invasive and may cause scarring. Inadequate characterization of the lesions may predispose to inadequate treatment protocols as well as higher treatment dosages. Clinical evaluation of treatment efficacy is subjective and may not be a representative of actual results. Therefore, an objective visualization modality is required. With evolving technology, numerous optical instruments have been developed for objective evaluation and visualization of subsurface structures. These include VISIA-CR™ system, videodermoscopy, high-frequency ultrasound (HFUS), laser speckle contrast imaging (LSCI), reflectance spectrophotometers and tristimulus colorimeter, laser Doppler flowmetry (LDF), cross-polarized diffuse reflectance imaging system (CDR), reflectance confocal microscopy (RCM), optical coherence tomography (OCT), and spatial frequency domain imaging (SFDI). These semi-quantitative modes of diagnosis are complementary to each other. Some can be used in the clinical setting while others, due to high instrument cost, are limited to the research settings. In this review, we bring to you a brief overview of noninvasive diagnostic modalities in PWS.
Topics: Hemangioma, Capillary; Humans; Infant, Newborn; Microscopy, Confocal; Port-Wine Stain; Treatment Outcome; Vascular Malformations
PubMed: 33788368
DOI: 10.1111/jocd.14087