Port-wine vascular malformations and glaucoma risk in Sturge-Weber syndrome

2010 ◽  
Vol 14 (1) ◽  
pp. 105 ◽  
Author(s):  
Debajit Ray ◽  
Anil K. Mandal ◽  
G. Chandrasekhar ◽  
Milind Naik ◽  
Niteen Dhepe
Keyword(s):  
Vascular Malformations ◽  
Port Wine ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome

scholarly journals The Pathogenesis of Port Wine Stain and Sturge Weber Syndrome: Complex Interactions between Genetic Alterations and Aberrant MAPK and PI3K Activation

2019 ◽  
Vol 20 (9) ◽  
pp. 2243 ◽  
Author(s):  
Vi Nguyen ◽  
Marcelo Hochman ◽  
Martin C. Mihm ◽  
J. Stuart Nelson ◽  
Wenbin Tan
Keyword(s):  
Endothelial Cells ◽  
Human Skin ◽  
Current Knowledge ◽  
Vascular Malformations ◽  
Genetic Alterations ◽  
Future Research ◽  
Port Wine Stain ◽  
Port Wine ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome

Port wine stain (PWS) is a congenital vascular malformation involving human skin. Approximately 15–20% of children a facial PWS involving the ophthalmic (V1) trigeminal dermatome are at risk for Sturge Weber syndrome (SWS), a neurocutaneous disorder with vascular malformations in the cerebral cortex on the same side of the facial PWS lesions. Recently, evidence has surfaced that advanced our understanding of the pathogenesis of PWS/SWS, including discoveries of somatic genetic mutations (GNAQ, PI3K), MAPK and PI3K aberrant activations, and molecular phenotypes of PWS endothelial cells. In this review, we summarize current knowledge on the etiology and pathology of PWS/SWS based on evidence that the activation of MAPK and/or PI3K contributes to the malformations, as well as potential futuristic treatment approaches targeting these aberrantly dysregulated signaling pathways. Current data support that: (1) PWS is a multifactorial malformation involving the entire physiological structure of human skin; (2) PWS should be pathoanatomically re-defined as “a malformation resulting from differentiation-impaired endothelial cells with a progressive dilatation of immature venule-like vasculatures”; (3) dysregulation of vascular MAPK and/or PI3K signaling during human embryonic development plays a part in the pathogenesis and progression of PWS/SWS; and (4) sporadic low frequency somatic mutations, such as GNAQ, PI3K, work as team players but not as a lone wolf, contributing to the development of vascular phenotypes. We also address many crucial questions yet to be answered in the future research investigations.

scholarly journals Use of Intralesional Bleomycin for Oral Hemangioma of Sturge-Weber Syndrome

2015 ◽  
Vol 6 (1) ◽  
pp. 17-19
Author(s):  
Devayani Shinde ◽  
Yogesh G Dabholkar ◽  
Akanksha A Saberwal ◽  
Haritosh Kamalakar Velankar ◽  
Adip K Shetty
Keyword(s):  
Vascular Malformations ◽  
Accurate Diagnosis ◽  
Port Wine Stain ◽  
Port Wine ◽  
Weber Syndrome ◽  
Neurocutaneous Disorder ◽  
The Face ◽  
Sturge Weber Syndrome ◽  
Venous Angiomas ◽  
Head Neck

ABSTRACT Sturge-Weber syndrome (SWS) or encephalotrigeminal angiomatosis is a rare neurocutaneous disorder characterized with vascular malformations and capillary venous angiomas involving the face, choroid of the eye and leptomeninges with port wine stain, seizures activity and mental retardation. In this paper we report a case of a patient affected by Sturge-Weber syndrome presenting with tongue hemangioma and emphasize the importance of an accurate diagnosis and management in the clinical practice. How to cite this article Shinde D, Dabholkar YG, Saberwal AA, Velankar HK, Shetty AK. Use of Intralesional Bleomycin for Oral Hemangioma of Sturge-Weber Syndrome. Int J Head Neck Surg 2015;6(1):17-19.

scholarly journals Anesthetic Challenges of a Child with Sturge–Weber Syndrome for Epilepsy Surgery: A Case Report

2019 ◽  
Vol 06 (01) ◽  
pp. 037-039
Author(s):  
Roshan Kurian ◽  
Karen R. Lionel ◽  
Ramamani Mariappan
Keyword(s):  
Vascular Malformations ◽  
Port Wine ◽  
Congenital Disease ◽  
Anesthesia Management ◽  
Massive Blood Loss ◽  
Weber Syndrome ◽  
The Face ◽  
Sturge Weber Syndrome ◽  
Venous Angiomas ◽  
Intracranial Vasculature

AbstractSturge–Weber syndrome is a rare congenital disease, also called encephalotrigeminal angiomatosis, caused by persistence of transitory primordial arteriovenous connections of the fetal intracranial vasculature. It is characterized by vascular malformations with capillary venous angiomas that involve the face, choroid of the eye, and leptomeninges. The main clinical features of this syndrome are port-wine stains, glaucoma, convulsions, and angiomas of the airway. Anesthesia management is directed toward anticipating a difficult airway, avoiding trauma to the hemangioma during airway manipulation, preventing the rise in the intracranial and intraocular pressures, anticipating and managing massive blood loss and the complications associated with massive blood transfusion, and avoiding factors that might trigger a seizure such as hypoxia, hypercarbia, hypotension, hypoglycemia, and hyperthermia.

Port-wine vascular malformations and glaucoma risk in Sturge-Weber syndrome

2009 ◽  
Vol 13 (4) ◽  
pp. 374-378 ◽  
Author(s):  
Sapna Sharan ◽  
Brighu Swamy ◽  
Deepa Ajay Taranath ◽  
Robyn Jamieson ◽  
Tao Yu ◽  
...  
Keyword(s):  
Vascular Malformations ◽  
Port Wine ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome

scholarly journals Periodontal Management of Sturge-Weber Syndrome

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Butchibabu Kalakonda ◽  
Koppolu Pradeep ◽  
Ashank Mishra ◽  
Krishnanjaneya Reddy ◽  
Tupili Muralikrishna ◽  
...  
Keyword(s):  
Oral Manifestations ◽  
Port Wine Stain ◽  
Scaling And Root Planing ◽  
Port Wine ◽  
Ocular Abnormalities ◽  
Parietal Lobes ◽  
Gingival Enlargement ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome ◽  
Neurocutaneous Syndromes

Sturge-Weber syndrome (SWS) is a sporadic disorder and is frequent among the neurocutaneous syndromes specifically with vascular predominance. This syndrome consists of constellation of clinical features like facial nevus, seizures, hemiparesis, intracranial calcifications, and mental retardation. It is characterized by focal port-wine stain, ocular abnormalities (glaucoma), and choroidal hemangioma and leptomeningeal angioma most often involving occipital and parietal lobes. The present paper reports three cases of SWS with oral manifestations and periodontal management, which included thorough scaling and root planing followed by gingivectomy with scalpel and laser in cases 1 and 3 consecutively to treat the gingival enlargement. However, the treatment in case 2 was deferred as the patient was not a candidate for periodontal surgery.

Port-Wine Stain (Nevus Flammeus) in Sturge-Weber Syndrome

2018 ◽  
pp. 1406-1408
Author(s):  
Jason E. Hale ◽  
Sumayya J. Almarzouqi ◽  
Michael L. Morgan ◽  
Andrew G. Lee
Keyword(s):  
Port Wine Stain ◽  
Port Wine ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome ◽  
Nevus Flammeus

STURGE WEBER SYNDROME- A RARE CASE REPORT ORIGINAL

2021 ◽  
pp. 4-5
Author(s):  
Om Prakash Singh ◽  
Vikas Kumar ◽  
Pushp Kant Tiwari
Keyword(s):  
Rare Case ◽  
Signs And Symptoms ◽  
Port Wine ◽  
Occipital Area ◽  
Weber Syndrome ◽  
Rare Case Report ◽  
The Face ◽  
Sturge Weber Syndrome ◽  
The Brain ◽  
Embryonic Vessels

Sturge-Weber Syndrome (SWS) is one of the encephalotrigeminal angiomatosis and one of the important segmental vascular neurocutaneous disorders .The occurrence is not very uncommon and the prevalence is 1:20000 to 1:50000.(1) SWS occurs due to the presence of residual embryonic vessels . The various signs and symptoms include capillary malformation in the face a port wine birthmark and similar malformation in the brain involving leptomeniges as well as blood vessels of the eye causing glaucoma. The patient presents with seizures , hemiparesis and stroke like symptoms, headaches and developmental delay.(2) The imaging nding in SWS children is the calcication in the parietal and occipital area of the brain. The EEG ndings in SWS are the attenuation and the excess of slow activities.We are presenting here a rare case of , a fourteen year old male child who presented to our emergency department with status epilepticus. The aim of presenting this case is to share the classical presentation and the challenges involved in the management

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