Neurofibromatosis type 1 with tarsal conjunctiva thickening
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Neurofibromatosis type 1 (NF1, von Recklinghausen disease) is an autosomal dominant inherited disorder caused by a heterozygous mutation of NF1 gene on chromosome 17. Its clinical manifestations vary from person to person. Symptoms of multiple neurofibroma (café au lait spot, freckles in the axillary or inguinal regions, pigmentary iris hamartoma (Lisch nodule), optic nerve glioma, and various types of bone abnormality) are common. This report presents a rare case of eyelid neurofibroma diagnosed by incisional biopsy of an ill-defined diffuse tarsal conjunctiva thickening in a patient diagnosed with NF1.

A 46-year-old Asian female patient presented with low back pain 15 years ago. A spinal magnetic resonance image (MRI) revealed 2 intradural masses at L3, L4, and L5 levels. After she was diagnosed with neurofibroma by biopsy, she underwent tumor resection. She had multiple subcutaneous neurofibromas and café au lait spot, and her father and sister were diagnosed with NF1. The patient satisfied more than 2 diagnosis criteria of NF1. However, she did not receive any ophthalmologic examination at that time.

Fifteen years later, she went to an ophthalmology clinic for a regular checkup. Her visual acuity was 20/20 for each eye, and the intraocular pressure was normal. There was ill-defined, diffuse tarsal conjunctiva thickening in the upper eyelid of the right eye. A large number of Lisch nodules were found in both eyes. Optical coherence tomography (OCT) images of the choroid showed multiple bright patchy regions typical of NF1.

Source: Medicine: August 2019 - Volume 98 - Issue 31

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