Purpose: To describe an unusual limbal lesion clinically resembling pterygium in a young patient with neurofibromatosis type 1.
Methods: Clinical case report with a review of the literature.
Results: The lesion was excised, and histopathology was performed. Histopathology disclosed conjunctival mucosa with expansion of the substantia propria by dense and loose collagenous tissue, small nerves, and thin-walled blood vessels. No skin or skin appendages were seen, although a small amount of mature adipose was present. Focally, spindle cells with wavy nuclei were seen scattered within the collagenous areas and were positive on S100 immunohistochemistry. Mast cells were readily identifiable. There was no evidence of actinic elastosis, dysplasia, or malignancy. These histopathological features most resemble heterotopia with some features of neurofibroma.
Conclusions: We report an unusual limbal lesion in a patient with neurofibromatosis type 1. Histopathological features resemble a heterotopia with some neurofibroma features. We suggest that all lesions excised from patients with neurofibromatosis, no matter how characteristic in appearance, be sent for histopathological confirmation of diagnosis.