Suicide screening in Sturge-Weber syndrome: an important issue in need of further study - Sebold AJ, Ahmed AS, Ryan TC, Cohen BA, Jampel HD, Suskauer SJ, Zabel TA, Comi AM, Rybczynski S.
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... (Source: SafetyLit)
Source: SafetyLit - July 17, 2020 Category: International Medicine & Public Health Tags: Commentary Source Type: news
Student's port wine stain causes her to be confused for an ACID-ATTACK victim
Ellahe Haghani, 37, has Sturge-Weber syndrome, which causes abnormal blood vessels to develop in the skin. Doctors in her native Iran refused to operate over fears she would 'bleed to death'. (Source: the Mail online | Health)
Source: the Mail online | Health - May 9, 2019 Category: Consumer Health News Source Type: news
Targeting nucleotide exchange to inhibit constitutively active G protein {alpha} subunits in cancer cells
Constitutively active G protein α subunits cause cancer, cholera, Sturge-Weber syndrome, and other disorders. Therapeutic intervention by targeted inhibition of constitutively active Gα subunits in these disorders has yet to be achieved. We found that constitutively active Gαq in uveal melanoma (UM) cells was inhibited by the cyclic depsipeptide FR900359 (FR). FR allosterically inhibited guanosine diphosphate–for–guanosine triphosphate (GDP/GTP) exchange to trap constitutively active Gαq in inactive, GDP-bound Gαβ heterotrimers. Allosteric inhibition of other Gα subunits...
Source: Signal Transduction Knowledge Environment - September 4, 2018 Category: Science Authors: Onken, M. D., Makepeace, C. M., Kaltenbronn, K. M., Kanai, S. M., Todd, T. D., Wang, S., Broekelmann, T. J., Rao, P. K., Cooper, J. A., Blumer, K. J. Tags: STKE Research Articles Source Type: news
Should I Worry About This Telangiectasia?
Discussion
Vascular stains are common problems that parents seek guidance about as they are often particularly worried that there may be an underlying problem or that it may be a long-term cosmetic problem. Fortunately many resolve or become less prominent or have treatment available. The term vascular stains includes all vascular malformations but commonly refers more directly to capillary malformations which are quite common.
Some common vascular stains include:
Nevus simplex
Names: Angel’s kiss (glabella or forehead), salmon patch, stork bite (nape of neck), nevus roseus, fading macular stain
Epidemiology: Very ...
Source: PediatricEducation.org - January 29, 2018 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news
A 'CRISPR' view of Sturge-Weber syndrome is coming into focus
(Boston Children's Hospital) Researchers at Boston Children's Hospital are studying the biological mechanisms underlying Sturge-Weber syndrome by leveraging CRISPR to grow blood vessel networks containing the disorder's genetic mutation. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - November 7, 2017 Category: International Medicine & Public Health Source Type: news
Watford woman bullied for being a Sturge-Weber sufferer
Sharon James, 38, from Watford, received cruel taunts throughout her childhood due to her Sturge-Weber syndrome. But even as an adult, she has been reduced to tears by strangers. (Source: the Mail online | Health)
Source: the Mail online | Health - May 25, 2017 Category: Consumer Health News Source Type: news
Rhode Island toddler suffers from Sturge-Weber syndrome
Brielle Coutu, two, from Coventry, Rhode Island, suffers from a rare syndrome characterized by a large birthmark across the face, multiple sets of seizures and glaucoma. (Source: the Mail online | Health)
Source: the Mail online | Health - March 11, 2017 Category: Consumer Health News Source Type: news
First a birthmark, then a rare disease diagnosis
Brielle plays near her home in Rhode Island.
Two-year-old Brielle Coutu loves listening to music, dancing and eating enough cheese that her mother, Heather, often wonders aloud, “Are you a mouse?” Brielle loves to play outside and is usually a chatty, happy-go-lucky little girl. But, sometimes, she can be overwhelmed by the excitement of gathering with family and friends.
“We think she has some sensory sensitivities related to her Sturge-Weber syndrome,” says Heather.
Brielle was born with what’s known as a port-wine birthmark on her face. It is aptly named for its dark reddish color. Port-wine birthmarks can ...
Source: Thrive, Children's Hospital Boston - March 1, 2017 Category: Pediatrics Authors: Kat J. McAlpine Tags: Diseases & Conditions Our Patients’ Stories Dr. Anna Pinto epilepsy neurology rare disease seizures Sturge-Weber syndrome Sturge-Weber Syndrome Clinic Source Type: news
Hemiplegia following mild head injury in a child with Sturge-Weber syndrome - a diagnostic dilemma - Ahmed S, Paul SP.
Sturge-Weber syndrome (SWS) is a neurocutaneous disorder with skin, eye, and brain involvement. Hemiplegia in children with SWS after a mild head injury is known to occur in up to one-fifth of cases. A3-year male child presented with a sudden onset hemiple... (Source: SafetyLit)
Source: SafetyLit - August 26, 2016 Category: Global & Universal Tags: Age: Infants and Children Source Type: news
New Vascular Classification of Port-Wine StainsNew Vascular Classification of Port-Wine Stains
Can port-wine stain phenotype be useful in determining whether it's an isolated finding or associated with Sturge-Weber syndrome? The British Journal of Dermatology (Source: Medscape Today Headlines)
Source: Medscape Today Headlines - December 8, 2014 Category: Consumer Health News Tags: Dermatology Journal Article Source Type: news
Living with Sturge-Weber Syndrome: Ryan’s Story
Ryan McIntyre as a newborn. The mark on his forehead, called a port wine stain, was the only outward sign that he might have Sturge-Weber syndrome. (Courtesy of Pam McIntyre)
About one in every 10 babies is born with a birthmark. Most are harmless and don’t require treatment. Some, however, can be signs of a serious problem.
When Ryan McIntyre was born, a dark red birthmark covered his left eyelid and part of his forehead. Within days, Boston Children’s dermatologist and Vascular Anomalies Center member Marilyn Liang, MD, diagnosed the discoloration as a capillary malformation, a common type of birthmark somet...
Source: Thrive, Children's Hospital Boston - May 31, 2013 Category: Pediatrics Authors: Tom Ulrich Tags: All posts Diseases & conditions Our patients’ stories Marilyn Liang Mustafa Sahin our patients' stories Sturge-Weber syndrome Sturge-Weber Syndrome Clinic SWS Vascular Anomalies Center Source Type: news
Researchers Pinpoint Genetic Cause Of Sturge-Weber Syndrome And Port-Wine Stain Birthmarks
In new findings published in the New England Journal of Medicine (Epub ahead of print), researchers from the Kennedy Krieger Institute reveal the discovery of the cause - a genetic mutation that occurs before birth - of Sturge-Weber syndrome (SWS) and port-wine stain birthmarks. SWS is a rare disorder affecting approximately one in 20,000 births, while port-wine birthmarks are more common, affecting approximately one million individuals in the United States... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - May 10, 2013 Category: Consumer Health News Tags: Genetics Source Type: news
Mutation Responsible For Port-Wine Birthmarks And Sturge-Weber Syndrome Identified
Researchers have identified the genetic mutation that occurs before birth responsible for the development of Sturge-Weber syndrome and port-wine birthmarks. Pinpointing the genetic cause behind this rare disorder and a common birthmark has been described by experts as "a major breakthrough". The study, published in the New England Journal of Medicine, explains the mutations responsible for Sturge-Weber syndrome and port-wine birthmarks, which could pave the way for future treatment options. Co-senior study author, Anne Comi, M.D... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - May 10, 2013 Category: Consumer Health News Tags: Dermatology Source Type: news
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: WebMD Health)
Source: WebMD Health - May 8, 2013 Category: Consumer Health News Source Type: news
Birthmark Has Genetic Ties to Neural Syndrome (CME/CE)
(MedPage Today) -- The same genetic mutation causes both uncomplicated port-wine stains and Sturge-Weber syndrome, which is characterized by the same staining plus leptomeningeal vascular abnormalities, researchers reported. (Source: MedPage Today Neurology)
Source: MedPage Today Neurology - May 8, 2013 Category: Neurology Source Type: news
