New Delhi: A port-wine birthmark on the forehead is the primary indicator of Sturge-Weber syndrome. This birthmark appears like a stain on the forehead or upper eyelid as if a dark red wine splashed on the skin.
Too much growth of blood vessels in the skin triggers this birthmark. Medically, these birthmarks are not considered harmful. In many cases, this birthmark can be the only symptom and no other issues are seen.
Dr. Kamala Subramanian of Sankara Eye Hospital, Shimoga highlighted the risk of vision loss or serious impact on eye health, “This syndrome is mostly seen in newborn infants and children. At times the symptoms may not develop until adulthood. Increased pressure in the eye leads to glaucoma which is also another key symptom of SWS. It is a misapprehension that glaucoma occurs only in people above 40 years of age.”
According to health experts, Sturge-Weber syndrome is a very rare disorder and not many cases are detected.
Estimates suggest that only one in 20,000-50,000 newborn infants is affected with this disorder. About three in 1,000 children have a port-wine birthmark. Only about one in 20 with the mark have other neurological issues.
SWS might seriously disturb the development of certain blood vessels, causing abnormalities in the brain, skin, and eyes.
Angiomas can also see growth in the brain which might lead to seizures. In some children, this can cause problems with their vision, endocrine system, and nervous system.
“Though cases of SWS are rare, once diagnosed with this condition it is very important to get a comprehensive dilated eye examination for your child to detect and treat early signs of Glaucoma. With no evident symptoms, glaucoma is often known as the ‘silent thief of sight’ and vision loss owing to this disease is irreversible,” Dr. Subramanian added.
A stain birthmark on face
Glaucoma with severe pain, swelling and even the risk of vision loss.
Severe headaches or migraines
This rare neurological disorder is caused by a genetic mutation. Mutation in the GNAQ gene causes Sturge-Weber syndrome. This mutation happens in the embryo, affecting only certain tissues in the body. It cannot be inherited from parents.
Doctors say the treatment for this disease depends on the symptoms and severity. Port-wine marks are permanent and cannot be removed without treatment.
“Affected infants should receive regular ophthalmological exams in order to promptly detect and treat glaucoma. In most cases the glaucoma caused due to SWS can be treated with medications,” added Dr Subramanian.
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