Image Gallery: Swelling of the upper eyelid with trichomegaly revealing neurofibromatosis type 1.

Abstract

Funding sources: none. Conflicts of interest: none to declare. Dear Editor, A 3‐week‐old boy with primary congenital glaucoma presented with a congenital swelling of the left upper eyelid (a) with trichomegaly and inconspicuous hypertrichosis of the left cheek (b). One month later, café au lait spots and naevus anaemicus were revealed over the trunk, while brain magnetic resonance imaging showed trigeminal nerve neurofibroma, left buphthalmos and orbital plexiform neurofibroma. A diagnosis of sporadic neurofibromatosis type 1 with an orbital plexiform neurofibroma was made. Congenital glaucoma with plexiform neurofibroma located on the eyelid is uncommon in neurofibromatosis type 1.1,2 This case highlights the importance of ophthalmological signs, which can reveal neurofibromatosis type 1 early on.