The eyelid plexiform neurofibroma in neurofibromatosis type 1: report of 10 cases and literature review   

Keywords
Neurofibromatosis type 1, Plexiform neurofibromatosis, Ptosis, Astigmatism, Resection. 

Abstract

Purpose. To describe the clinical and therapeutic features of plexiform neurofibromas in patients with neurofibromatosis type 1.

Methods. This was a retrospective study over a period of 10 years including 10 patients with von Recklinghausen’s disease and having an eyelid plexiform neurofibroma. All patients were treated in the department of Ophthalmology of Farhat Hached University Hospital in Sousse, Tunisia. 

Results. The age of our patients at diagnosis ranged from 18 months to 42 years. Six women and 4 men were involved. The eyelid plexiform neurofibroma was unilateral in all cases. This lesion appeared at birth in 3 patients and between 3 to 5 years in 7 patients. The upper eyelid was the site of the lesion in 100% of cases. A mechanical ptosis was present in 9 patients. Va- rious eye lesions were: Lisch nodules (8 patients), facial hemihypertrophy (5 patients), external canthal dystrophy (2 pa- tients), and one case for each of the following injuries: ectropion of the lower lid entropion of the lower lid, congenital glauco- ma and hypertrichosis brow. Seven patients underwent surgical treatment: 4 had received tumor resection associated with the treatment of ptosis and the others had only ptosis surgery. Resection of plexiform neurofibroma was followed by an ana- tomic success in 100%. The surgery of ptosis was followed by a good postoperative outcome in all patients. 

Conclusion. The plexiform neurofibroma is a suggestive sign of neurorofibromatosis type 1. The polymorphism of its clinical associations, as well as the risk of their malignant transformation means that the knowledge of this disease is important for any practitioner.