Walsh & Hoyt: Clinical Features

Infants born with facial angiomas have a 10% risk for ocular or pial vascular malformations consistent with SWS. The facial angioma, also called nevus flammeus or port-wine stain, appears as one or several dull, red, irregular patches. The reddish lesion is usually obvious, but occasionally it is pale and unappreciated. The patches are often located within the cutaneous distributions of the ophthalmic and maxillary divisions of the trigeminal nerve, especially around the orbit and upper eyelid. The skin supplied bythe mandibular division of the trigeminal nerve is less often affected. However, all three divisions of the trigeminal nerve maybe involved; hence, the designation of the syndrome as encephalo-trigeminal angiomatosis. The relationship to the trigeminal nerve, however, is coincidental to abnormal embryonic development of the vasculature that mostly affects cranial structures. Bifacial lesions pose a greater risk for bihemispheric angiomatosis, whereas, infants with facial angiomas that spare the upper face have a lower risk for intracranial involvement. Glaucoma. Choroidal angioma. Iris heterochromia. Conjunctiva angioma. Sclera angioma. Meningeal angioma. Seizure. Mental retardation. Focal neurological deficits. Migraine.