Sturge-Weber syndrome is a well-known angioma syndrome characterized by the excessive growth of blood vessels, leading to the formation of angiomas in various parts of the body, including the skin, eyes, and brain.
Understanding Angioma Syndromes
An "angioma syndrome" refers to a group of conditions or a specific condition where the primary characteristic is the presence of angiomas, which are benign growths resulting from the overgrowth of blood vessels. These syndromes often affect multiple organ systems, leading to a range of symptoms depending on where the angiomas develop.
Sturge-Weber Syndrome: A Key Angioma Syndrome
One of the most prominent conditions often referred to as an angioma syndrome is Sturge-Weber syndrome (SWS). This rare, non-hereditary neurological and skin disorder is primarily defined by abnormal blood vessel growth.
In Sturge-Weber syndrome, blood vessels grow excessively in the skin, eyes, and brain. These overgrowths form angiomas, which are visible as birthmarks or can affect internal organs.
Key Features of Sturge-Weber Syndrome
The characteristic features of Sturge-Weber syndrome typically include:
- Port-Wine Stain: A distinctive birthmark on the face, often present at birth. This mark, an angioma in the skin, typically appears as a flat, reddish-purple patch. It usually affects one side of the face, following the distribution of a nerve.
- Neurological Involvement: Angiomas can form in the brain, particularly on the surface (leptomeningeal angioma). This can lead to:
- Seizures
- Developmental delays
- Weakness on one side of the body
- Headaches
- Eye Problems: Angiomas can also affect the eyes, increasing pressure within the eye, a condition known as glaucoma. This can potentially lead to vision loss if not managed.
What are Angiomas?
An angioma (pronounced an-jee-OH-muh) is a benign growth made up of small blood vessels or lymphatic vessels. They occur when blood vessels grow too much or become abnormally dilated. In the skin, an angioma can manifest as a birthmark, such as the port-wine stain seen in Sturge-Weber syndrome. Angiomas can vary in size, color, and location, ranging from small, raised red spots to large, flat discolored patches.
Diagnosing and Managing Angioma Syndromes
Diagnosis of an angioma syndrome like Sturge-Weber syndrome typically involves a physical examination, imaging tests (such as MRI of the brain), and eye examinations. Management is often multidisciplinary, focusing on addressing specific symptoms and preventing complications. This may include medications for seizures, laser therapy for skin lesions, and eye drops or surgery for glaucoma.
For more detailed information on Sturge-Weber Syndrome, you can visit resources like the National Institute of Neurological Disorders and Stroke (NINDS).
