Segmental schwannomatosis: characteristics in 12 patients

Orphanet Journal of Rare Diseases 14, Article number: 207 (2019) | Download Citation

Abstract

Background

Segmental schwannomatosis is characterized by multiple schwannomas affecting one-limb or less than 5 contiguous segments of spine. Its characteristics are not well described in the literature. Our objective was to better describe the demographic and clinical characteristics of this condition.

Methods

This was a retrospective, bi-center study conducted in two French expert centers for neurofibromatosis and schwannomatosis. The clinical, radiographic, pathological and molecular aspects were extracted from patients’ clinical records.

Results

Twelve patients with segmental schwannomatosis were identified. Eight were female and 4 were male. The median age at initial symptom was 29 years (range: 6–60 years) and the median age at diagnosis was 34.5 years (range: 13–65 years). Pain was the initial symptom for the majority of patients (7 of 12). The number of tumors was variable with six patients having more than 10 tumors. Peripheral distribution was seen in all patients. Quality of life could be impaired (median Dermatology Life Quality Index score was 4.5 (range: 2–13). The median duration of follow up was 3 years (range: 1–26). Chronic pain was the main complication (9 of 12 patients). Surgical intervention to control chronic pain was performed for 9 patients of whom 5 experienced recurrence of tumors. Molecular investigations revealed heterozygous LZTR1 variants in 3 of 9 patients.

Conclusion

Segmental schwannomatosis is a rare condition that may start early in life and often remains undiagnosed for many years. Pain is the main symptom and consequently could impair the quality of life. Surgery seems to be effective, but recurrences are frequent. Some patients carried heterozygous LZTR1 variants. Further studies are needed to better understand this rare condition.