CHIEF COMPLAINT:
Growth of right eyelid and eye socket.
HISTORY OF PRESENT ILLNESS:
The patient is a (XX)-year-old female noted to have a growth of the right upper eyelid and right eye socket since birth. The patient notes that this has caused closing of the right upper lid with obstruction of vision. There is occasional swelling and dryness. The patient was evaluated by a neuro-ophthalmologist who obtained imaging of the orbits and brain, which documented a normal brain scan with a diffuse enhancing subcutaneous soft tissue surrounding the right orbit, predominantly involving the eyelid region, worrisome for a plexiform neurofibroma. The patient was subsequently diagnosed with neurofibromatosis. There was reduced levator function on the right with poor closure and medial lagophthalmos present. A second opinion was offered for oculoplastic consultation.
PAST MEDICAL HISTORY:
Negative.
FAMILY HISTORY:
Negative for neurofibromatosis and positive for hypertension and diabetes.
ALLERGIES:
No known drug allergies.
MEDICATIONS:
None.
REVIEW OF SYSTEMS:
A 14-point comprehensive review of systems was otherwise negative.
PHYSICAL EXAMINATION:
Visual examination shows a corrected visual acuity measured at 20/25, right eye, and 20/20, left eye. Extraocular muscle abductions appeared intact, both eyes. Pupils were normal. Confrontation visual fields were 1+ supratemporally depressed on the right side and normal after eyelid elevation on the right side. The confrontation visual fields were intact on the left side. External examination documented a diffuse lesion of the right upper lid, right anterior periorbital region, wrapping around the lateral canthus. The tumor expanded the full thickness of the lid and had a bag-of-worms consistency. There was eversion of the tarsal plate performed with involvement of the tarsal plate noted. There was 2 mm of downward dystopia of the right lateral canthal angle. There was 1+ disk pigmentation of the cutaneous surface of the right upper lid and right lateral canthal region. The eyelid margin to corneal reflex distance #1 measured -0.5 mm, right eye, and 3.5 mm, left eye. There was a vertical palpebral aperture measured at 4 mm right eye, 8 mm, left eye. Levator function was 10 mm on the right and 15 mm on the left side. There was no fatigue in sustained upgaze. The lid margin to crease distance was 10 mm on the right, expanded by this lesion, and 6 mm on the left side in a lateral flare Asian lid configuration. There was a 1+ upper Bell’s phenomenon present and 0.5 mm of medial lagophthalmos with 2 mm of right apparent hypoglobus. The 5-minute basal tear secretion test measured 12 mm of wetting on the right and 14.5 mm of wetting on the left side. Handheld slit-lamp examination showed an expanded lid margin thickness, greater when examining laterally, of the right upper eyelid and right lower eyelid. There was 90% obstruction of the superior pupillary aperture by the upper lid tissue on the right side with 2+ eyelash ptosis induced and normal lacrimal puncta, conjunctiva and sclera. There were no Lisch nodules of the iris present bilaterally and 1+ disruption of the tear lake with normal epithelium stroma and endothelium, both eyes. Anterior chamber depth was 3+ with no cell or flare present. Multiseries digital external ocular photography documented a typical S-shaped deformity of the right upper eyelid with mechanical ptosis from the periorbital mass of the right side with excessive tumorous tissue of the right upper eyelid, expanding the lid crease fold and inducing greater lateral ptosis.
IMPRESSION:
Neurofibromatosis with right upper eyelid plexiform neurofibroma invading right anterior periorbital region, right pretarsal and preseptal region of right upper eyelid with associated mechanical and possible levator congenital maldevelopment ptosis-related blepharoptosis.
DISCUSSION AND RECOMMENDATIONS:
Debulking of right upper eyelid periorbital tumor. This will be combined with right upper eyelid blepharoplasty repair of lid crease fold deformity, as well as right upper eyelid external levator resection and/or advancement. We have discussed the risks, benefits and alternatives to surgery including no surgical intervention. The patient is aware of the risks of bleeding, infection, loss of vision, chronic asymmetry, eyelid hypesthesia, problems with anesthesia, dry eye formation after surgery, failure of the procedure, need for revision surgery, the procedure, and all questions were answered. The patient is aware that after this visit she will return to her primary care physician for further management of neurofibromatosis, including possible genetic testing.
