Abstract

Study design: Case series
Purpose: To present clinical features and surgical outcome of patients with periocular segmental neurofibromatosis (SNF)
Methods: Retrospective case series of 5 patients with SNF. It was classified as SNF in the presence of focal dermatomal distribution of NF. Systemic evaluation was performed for other manifestations of neurofibromatosis.
Results: Of the 5 cases of SNF, 2 were females and 3 males with age ranging from 17 to 70 years, and no family history. Case 1 and 2 presented with multiple nodular unilateral periocular neurofibromatosis. Case 3 was referred for blepharoptosis, and case 4 with eyelid ectropion. Unilateral scalp lesions in case 5. All patients underwent surgical excision and reconstruction. Systemic cutaneous pigmentary features was found in 3. Genetic testing was conducted in 4 patients.
Conclusion: SNF is a rare entity with specific mutation in NF gene. Surgical reconstruction provides excellent cosmesis improving the quality of life.