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Corneal and Sclerocorneal Limbus Neurofibromas: an Exceptional Manifestation of von Recklinghaussen Disease (NF-1). A Case Report and Review of The Literature

Autor/es
Delissa Díaz Díaz, Marta Rodríguez González, Judit Díaz Díaz, David Gata, Victoria Sánchez Galán, Aurelio Hernández Lain
Hospital Universitario 12 de Octubre
delissadiaz@gmail.com
Orden de Presentacion
137
Fecha de Presentacion
Viernes 8 febrero 2013. 16.30-17.00. Sesión II
Pantalla
6

Introducción

Neurofibromatosis type 1 (NF-1) is a genetic disease characterized by neoplastic and non neoplastic disorders involving tissues of neuroectodermal and mesenchymal origin. It is characterized clinically by cutaneous and subcutaneous tumors with patches of hyperpigmentation. The multiple cutaneous and subcutaneous tumors are nerve sheath neoplasms, called neurofibromas that may be composed of Schwann cells, fibroblasts, vascular elements, and a few mast cells. These tumors can develop anywhere along the peripheral nerve fibers. While ophtalmic manifestations occur in up to 90% of patients older than 6 years of age, as far as we know there is only 1 case report of a corneal diffuse neurofibroma as a manifestation of von Recklinghausen disease (Valeria Sánchez-Huerta et al. Cornea 2003; 22 (1): 59-62). We present a rare case of a patient with NF-1 that developed corneal and sclerocorneal limbus neurofibromas.

Materiales y métodos

A 24-year-old man had a past medical history of NF-1 (diagnosed at 6 months of age), with rigth great wing sphenoid displasia, right periorbital plexiform neurofibromas and residual blindness. The patient was admitted for surgical treatment (enucleation of the right eye and facial reconstruction). Macroscopic and histologic examination were performed. ). For light microscopic examination, the tissue was fixed in 20% neutral buffered formalin, routinely processed, and embedded in paraffin. Paraffin sections were stained with hematoxylin-eosin (HE). Immunohistochemical staining was performed with monoclonal and polyclonal antibodies. For collecting data MEDLINE database was used to review papers related to neurofibromas, NF-1, eye and cornea.

Resultados

Gross examination revealed a brownish-white corneal button (1,2 x 1 x 0,1 cm) and a single piece of a greyish elastic irregular tissue (1 x 0,4 x 0,3 cm). Histologically, the cornea and the sclerocorneal limbus (elastic tissue) showed poorly defined fascicles of spindle cells with oval and elongated nuclei with a wavy, serpentine configuration and pointed ends , arranged in a loose delicate collagenous stroma. No mitotic figures, pleomorphism, or areas of necrosis were seen. Immunoreactivity for EMA, S-100 protein and Neurofilaments were positive in spindle cells.

Conclusiones

Neurofibromas arising from the peripheral nerve sheath may involve any part of the body. Corneal neurofibromas are infrequent in patients with NF-1. However we should increase the awareness of the association NF-1 and corneal neurofibromas.