Plexiform Neurofibroma Involving the Lacrimal Gland

Abstract

Background: To present a rare case of a 2-year-old girl with neurofibromatosis type 1 (NF1) who presented with ptosis of the right upper eyelid along with a tumor in the eyelid. Methods: A magnetic resonance imaging scan of the orbit revealed a solid tumor located extraconally at the site of the right lacrimal gland. A transcranial orbitotomy was performed. Results: Histopathological examination demonstrated expanded nerve branches/fascicles cut in various planes in between normal lacrimal gland acini. These findings were consistent with a plexiform neurofibroma presumably deriving from the lacrimal nerve and/or a supraorbital nerve branch. Conclusion: This is the first case of a plexiform neurofibroma involving the lacrimal gland ever described and the tumor shows similarities with neurofibroma in other salivary glands with a high recurrence rate. Plexiform neurofibromas are frequently seen in patients with NF1 and rarely undergo malignant transformation.

The concept of type 2 segmental mosaicism, expanding from dermatology to general medicine

“…) are sometimes described as ‘elephantiasis neuromatosa’ . Moreover, T2SM may involve the brain, eye and orbita, bones and joints, parotis, thyroid, larynx, trachea, lung, heart, oesophagus, upper gastro‐intestinal tract (Fig. ), rectum, liver, gall bladder, pancreas, retroperitoneum and bladder …”