Skin: Port Wine Stain in “Forehead” territory (NOT V1 dermatome) reflecting an embryonic placode affected by a single mutation in the neural crest cells from the forebrain region
Eye involvement: glaucoma (!)
Dilated conjunctival vessels
Coroidal angiomas
Regular monitoring by ophtalmology
Brain: leptomeningeal angiomatosis
Even if brain MRI is normal at birth, changes may happen over time. Prophylatic sirulimus, aspirin and antiepileptics may be needed - refer to neurology
Laser PDL
Babies need general anesthesia - danger to the eyes
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