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Neurofibromatosis is primarily a neuroectodermal dysplasia characterized by tumor like formations derived from proliferation of peripheral nerve elements. It was identified as a distinct entity by VonRecklinghausen in 1882, after whom this disease is named. Two forms of neurofibromatosis have been described. The classic VonRecklinghausen disease as neurofibromatosis 1 (NF1) and bilateral acoustic neurofibromatosis 2 (NF2)[16]. NF1 (formerly known as peripheral neurofibromatosis) is the most common gene disorder affecting central nervous system (1 in 3000). It is autosomal dominant with variable expressivity and has a high spontaneous mutation rate. It is on the long arm of chromosome 17. The malignant lesion in NF1 may involve deletion of both copies of the tumor suppressor gene. The major ocular manifestations are Lisch iris nodules and orbital features of plexiform neurofibromas, dysplasia of the sphenoid wing, and optic nerve glioma. Rare features are prominent corneal nerves, perilimbal neurofibromas, congenital megaglobus, glaucoma, pigmentary hamartomas of the uveal tract, retinal astrocytoma and hamangiomas. The cutaneous manifestations are neurofibromas and caféaulait patches. Similarly we have seen 3 patients of NF1 with lisch iris nodules in one case, caféaulait patches in two cases in association of optic nerve glioma, plexiform neurofibroma (Figure 6, 10). NF2 (formerly called central neurofibromatosis) is characterized by the development of coustic neuromas, and less frequently, meningiomas, spinal nerve root schwanomas, and presenile posterior subcapsular lens opacities. It is autosomal dominant but ten times more rare than NF1. The gene for NF2 is situated on chromosome 22. The major findings of NF2 are bilateral acoustic neuromas or unilateral acoustic neuroma associated with any of two of the following neurofibroma, meningioma, glioma schwanoma, juvenile posterior subcapsular lens opacities[17]. In our study there was one case of unilateral neurofibromatosis type 2 presented with slow progressive dimness of vision in both eyes, decreasing hearing, headache and decreased corneal sensitivity. The CT scan showed left side acoustic neuroma (Figure 11). The patient referred to the neurosurgeon for further treatment. Lacrimal gland benign mixed cell Tumor (pleomorphic adenoma) is called as pleomorphic because of its widely varying histologic picture. In our study, 5 patients with benign mixed cell tumor of lacrimal gland were presented in between 2nd to 5th decade of life with slight female to male preponderance of 3:2, Sshaped lid swelling, mild to moderate tender superolateral mass, downward and inward displacement of globe of gradual onset, mass induced diplopia, decreasing vision. The CT scan demonstrates pressure indentation and expansion of the lacrimal fossa in most cases. The complete extirpation via a modified lateral orbitotomy with intact capsule was done in three cases and with accidental rupture of capsule in two cases. The excised mass biopsy confirms pleomorphic adenoma (Figure 12).
Figure 12 Lacrimal gland pleomorphic adenoma (benign mixed cell tumor) （略）
A: Postlateral orbitotomy photograph of 42 years old female with superiolateral orbital swelling (left side); B: The CT scan (axial view) of the same patient showing lacrimal gland growth on the left side; C: Xray skull (PA view) of the same patient showing increased density on the superiolateral part of the left orbit
The development of multidisciplinary and microsurgical approaches has substantially improved management. The key issue is to develop a management plan that allows one to arrive at the correct diagnosis and minimize the risk of recurrence. In this study, we have concluded that early arrival, careful evaluation, proper diagnosis and treatment can prevent the patient from visual and life threatening complication.
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