Segmental spinal neurofibromatosis 1: a novel phenotype

Introduction Segmental neurofibromatosis (SNF) is a rare subtype of neurofibromatosis (NF). The disease is characterized by features circumscribed to one or more body cutaneous and/or subcutaneous segments. This is a classic example of somatic mosaicism which occurs by postzygotic mut ation of the NF1 gene late in the course of embryonic development affecting localized neural crest lines in the fetus. Spinal neurofibromatosis, on the other hand, is characterized by histologically proven bilateral neurofibromas of the spinal roots. Methods Hereby we describe a novel manifestation of spinal SNF. Results Our case report demonstrated one patient who had segmental spinal expression of the disease classified as true mosaic/segmental NF1 along with its management plan treated at one of the largest NF1 centers to exist. Conclusion This will aid in understanding the rare clinical presentation and treatment options for this novel phenotype.

Automated summary

Segmental neurofibromatosis (SNF) is a rare subtype of neurofibromatosis (NF) characterized by localized skin and/or subcutaneous manifestations. Spinal neurofibromatosis, on the other hand, is characterized by histologically proven bilateral neurofibromas of the spinal roots. This case report describes a novel manifestation of spinal SNF and discusses treatment options for this rare phenotype.