Neurofibroma

Neurofibroma (neurolemmoma, schwannoma, perineurofibroma) arises from peripheral/cranial/sympathetic nerves. Upper eyelid common; soft, swollen thickened eyelid, pigmentation, ptosis, cord-like/nodular, painless. Associated with glaucoma/iris/ciliary/choroidal neurofibroma. Orbital bone defect causes pulsatile exophthalmos.

Common Symptoms

Limb numbness; hyperesthesia; excess catecholamines

Causes

NF1 gene (350 kb, 59 exons, 2818 aa, neurofibromin 327 kD); tumor suppressor loss. NF2 deletion causes schwannoma/meningioma. Neural crest dysplasia; excess NGF. NF1: distal peripheral nerves/cauda equina; acoustic/optic/trigeminal. 3-4% malignant (especially plexiform). NF2: bilateral acoustic neuromas, multiple meningiomas.

Treatment

Surgery; drug therapy; supportive care

Prevention

Genetic counseling; avoid consanguinity; carrier testing; prenatal diagnosis.

Recommended Department

It is recommended to visit the oncological surgery department; before the visit you may first book an appointment and connect with experts through this platform.

Warm reminder: The above information is provided for health education reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek care at a regular hospital in time.