Encephalofacial Angiomatosis

Encephalofacial angiomatosis, also known as Sturge-Weber syndrome, is a rare congenital disorder that affects both the neurological and integumentary systems. It is characterized by the presence of facial vascular malformations, neurological abnormalities, and ocular involvement.

Facial Vascular Malformations

The most distinguishing feature of encephalofacial angiomatosis is the presence of facial vascular malformations, which are commonly referred to as “port-wine stains.” These birthmarks are typically seen on one side of the face and vary in size and shape. They can range in color from pink to deep purple and tend to darken with age.

Neurological Abnormalities

Individuals with encephalofacial angiomatosis often experience neurological abnormalities, mainly affecting the central nervous system. These abnormalities can include seizures, developmental delays, intellectual disabilities, and hemiparesis (weakness on one side of the body) due to the abnormal blood vessel development in the brain.

Ocular Involvement

Another common feature of encephalofacial angiomatosis is ocular involvement. Patients frequently exhibit glaucoma, which may lead to increased intraocular pressure and potential vision loss. Some individuals may also develop abnormalities in the blood vessels of the eye, leading to excessive tearing, redness, and sensitivity to light.

Encephalofacial angiomatosis is a complex condition that requires multidisciplinary care involving dermatologists, neurologists, ophthalmologists, and other healthcare professionals. Treatment primarily focuses on managing symptoms and complications associated with the disorder, tailored to the individual needs of each patient.