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GAME-CHANGING DISCOVERY OF GENE MUTATION THAT CAUSES STURGE-WEBER SYNDROME, PORT-WINE STAIN BIRTHMARKS OFFERS NEW HOPE
Kennedy Krieger Researchers Pinpoint Genetic Cause of Rare Disease and Common Birthmark
BALTIMORE, MD -- In new findings published today 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.
"This is a complete game changer for those with Sturge-Weber syndrome and the millions born with port-wine birthmarks,” said co-senior study author, Anne Comi, M.D., Director of the Kennedy Krieger Institute’s Hunter Nelson Sturge-Weber Center. “Now that we know the underlying genetic mutation responsible for both conditions, we’re hopeful that we can move quickly towards targeted therapies, offering families the promise of new treatments for the first time.” |
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| Welcome to Birthmarks.com, the premiere resource site for information about vascular and pigmented birthmarks. Community support for those whose lives are affected by birthmarks is offered through a free, private newsgroup with an international membership. A regularly published newsletter covers topics such as laser therapy, makeup and skincare, insurance, doctor referrals, and research findings. The newsletter also features personal stories written by those with birthmarks as well as parents of children with a birthmark. These stories share advice and resources that help support the daily challenges of living with a birthmark. Birthmarks.com is a nonprofit organization. ...more about us... |
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Why Birthmarks.com was founded
By Michael Steffano, Founder
When Birthmarks.com was started in November 1995 surprisingly little information could be found online. The Internet presented an opportunity to gather and share a wealth of information. It was also a way to find and connect with others, like me, who have been significantly affected by a birthmark. |
Birthmark Statistics:
1 in 10 children are born with a vascular birthmark
1% of children born with a vascular birthmark (1 in 1,000 of all children) will require medical intervention
A port-wine stain, a type of vascular birthmark, occurs in 3 of 1,000 infants. |
Facts About Vascular Birthmarks and Tumors
If you are interested in vascular malformations and only have time to read one thing on our website, then we recommend this pamphlet published by the Vascular Birthmarks Foundation: Facts About Vascular Birthmarks and Tumors. (381 KBytes, PDF) |
Type of Birthmarks
Summary of different types of vascular and pigmented birthmarks. |
The Importance of Correct Diagnosis
There are 2 main groups of vascular birthmarks--hemangiomas and the malformations. Malformations can consist of different types of vessels and various combinations of vessels. There is often a predominant type of vessel in a malformation. PWS consists of capillaries and small veins (venules) primarily. Venous malformations consist mainly of veins and thus have a bluish color. Lymphatic malformations consist primarily of lymphatic vessels, but often are mixed in with veins and capillaries. AVMs are arteriovenous malformations which have a pulse and have arterial connections as well as venous connections. Malformations are present at birth, but may not become obvious until later in life, when the vessels get larger. Each type of malformation is treated in a different way. AVMs must be treated surgically or by blocking off the abnormal arteries with coils, etc. PWS are treated with laser in most cases. When there is tissue overgrowth, that can be treated surgically. Venous malformations may be treated with sclerotherapy or by surgery. Lasers are usually not effective for treating them. Lymphatic malformations tend to be extremely challenging lesions, since they often recur after surgery. There are experimental treatments, but not all patients are candidates for these.
Malformations, like hemangiomas, can occur anywhere in the body. It is important to establish the correct diagnosis, since that will dictate which treatments are most appropriate.
(contributed by Our Newsgroup member Dr. Linda Rabinowitz) |
Birthmark Related Conditions and Syndromes
Summary of the medical conditions and syndromes associated with vascular birthmarks. |
Pied Beauty - by Gerard Manley Hopkins
Glory be to God for dappled things - -
For skies of couple-color as a brinded cow;
For rose-moles all in stipple upon trout that swim;
Fresh-firecoal chestnut falls; finches' wings;
Landscape plotted and pieced - - fold, fallow and plow;
And all trades, their gear and tackle and trim.
All things counter, original, spare, strange;
Whatever is fickle, freckled (who knows how?)
With swift, slow; sweet, sour; adazzle, dim;
He fathers-forth whose beauty is past change:
Praise Him.
(contributed by Our Newsgroup member Victoria Crawford) |
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| Established November 1995 |
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