Faculty Opinions recommendation of Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.

2013 ◽  
Author(s):  
Mustafa Sahin
Keyword(s):  
Somatic Mutation ◽  
Port Wine ◽  
Port Wine Stains ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome

scholarly journals Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ

2013 ◽  
Vol 368 (21) ◽  
pp. 1971-1979 ◽  
Author(s):  
Matthew D. Shirley ◽  
Hao Tang ◽  
Carol J. Gallione ◽  
Joseph D. Baugher ◽  
Laurence P. Frelin ◽  
...  
Keyword(s):  
Somatic Mutation ◽  
Port Wine ◽  
Port Wine Stains ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome

scholarly journals Gingival overgrowth associated with port-wine stains: A case report of Sturge-Weber syndrome

2014 ◽  
Vol 3 (4) ◽  
pp. 287
Author(s):  
Pinnamaneni Indumathy ◽  
Dasari Rajashree ◽  
PanthulaVeerendranath Reddy ◽  
KodugantiRekha Rani
Keyword(s):  
Case Report ◽  
Port Wine ◽  
Gingival Overgrowth ◽  
Port Wine Stains ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome

scholarly journals Sturge-Weber syndrome coexisting with polydactyly: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Hongxi Wang ◽  
Nana Dong ◽  
Li Tan ◽  
Chukai Huang
Keyword(s):  
Intraocular Pressure ◽  
Case Report ◽  
Port Wine ◽  
Case Presentation ◽  
Port Wine Stains ◽  
Weber Syndrome ◽  
Left Neck ◽  
Sturge Weber Syndrome ◽  
Nevus Flammeus ◽  
Underlying Pathogenesis

Abstract Background Sturge-Weber syndrome (SWS) is a sporadic congenital disorder, characterized by unilateral facial nevus flammeus associated with ipsilateral glaucoma, choroidal angioma and leptomeningeal hemangiomas. SWS can comorbid with other disorders in some patients, however, there has been no prior described case of SWS and polydactyly occurring in the same patient. Case presentation A 15-year-old girl with diagnosis of SWS presented to our hospital. She had bilateral glaucoma and extensive port-wine stains distributing in bilateral faces, left neck and left upper limb. Meanwhile, the patient was noted to demonstrate the superfluous digit attaching on the left thumb and was diagnosed as polydactyly. Trabeculectomy, with intraoperative application of mitomycin C and postoperative subconjunctival injections of 5-fluorouracil, was successful in controlling the intraocular pressure in both eyes. Conclusions We report a case with bilateral SWS coexisting with unilateral polydactyly, which, to our knowledge, has not been recognized previously and adds further evidence to the existing literature. In view of the rare concurrence of SWS and polydactyly, the etiology is unclear and further investigation is required to explore the underlying pathogenesis.

scholarly journals A Rare Presentation of Acquired Port Wine Stain in an Elderly Male

2021 ◽  
Vol 4 (1) ◽  
pp. 457-458
Author(s):  
Prasanna Kumar Jha ◽  
Satyendra Kumar Singh
Keyword(s):  
Blood Vessels ◽  
Vascular Lesions ◽  
Port Wine Stain ◽  
Port Wine ◽  
Elderly Male ◽  
Rare Presentation ◽  
Vascular Plexus ◽  
Port Wine Stains ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome

Acquired port wine stain though an uncommon entity that develops later in life, resembles congenital port wine stain morphologically and histologically. Congenital port wine stains are vascular lesions caused by progressive ectasia of blood vessels which is located in the vascular plexus of the dermis. Congenital port-wine stains may be associated with Sturge Weber syndrome causing neurological and eye abnormalities such as glaucoma. Here we report a 60-year-old male presenting with a complaint of asymptomatic reddish patches over the nose for 15 years.

Sturge-Weber Syndrome Without Port-Wine Nevus

PEDIATRICS ◽  
1977 ◽  
Vol 60 (5) ◽  
pp. 785-785
Author(s):  
Richard J. Gorman ◽  
O. Carter Snead
Keyword(s):  
Trigeminal Nerve ◽  
Port Wine ◽  
Substantial Evidence ◽  
Port Wine Stains ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome

In their article on birthmarks in the neonate (Pediatrics 58:218, August 1976), Jacobs and Walton state that the Sturge-Weber syndrome only occurs when the port-wine stains involve the distribution of the first branch of the trigeminal nerve. This point would appear to be misleading, as there is substantial evidence that the Sturge-Weber syndrome can occur in the absence of a facial nevus. Lund1 reported on seven patients without a facial nevus, Peterman et al.2 noted five, Tonnis and Friedmann3 reported four, and Poser and Traveras4 reported on an additional two cases.

Sturge-Weber Syndrome: A Case Study

2006 ◽  
Vol 25 (2) ◽  
pp. 89-98 ◽  
Author(s):  
Linda Welty
Keyword(s):  
Mental Retardation ◽  
Clinical Presentation ◽  
Occipital Region ◽  
Port Wine ◽  
Case Presentation ◽  
Port Wine Stains ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome ◽  
Congenital Syndrome

Sturge-Weber syndrome (SWS) is a rare, sporadic, progressive, congenital syndrome. In its complete trisymptomatic form, SWS is physically characterized by port-wine stains over the trigeminal area, leptomeningeal angiomas usually over the parieto-occipital region, and eye abnormalities. Clinical manifestation for infants with SWS depends on the affected organs, but can include seizures, mental retardation, and glaucoma. This article begins with a case presentation of an infant with SWS and then presents the etiology, embryology, pathophysiology, clinical presentation, management, and prognosis of SWS.

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