Burden of disease and unmet needs associated with scoliosis in neurofibromatosis type 1: a systematic literature review.

ABSTRACT: A subset of patients with neurofibromatosis 1 (NF1), a rare autosomal dominant genetic condition, can develop skeletal manifestations. Scoliosis secondary to NF1 (hereafter referred to as NF1 scoliosis) is the most common and is expected to add substantial burden for patients with underlying NF1 due to its early age at onset, potentially rapidly progressive nature, and interplay with other NF1-related pathology (eg, spinal tumor development). Despite this, there are limited studies comprehensively evaluating the burden of NF1 scoliosis to help better characterize unmet need. To address this evidence gap, a systematic literature review using Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) was conducted to summarize current evidence around the epidemiology and nat

SUBMITTER: Welborn M 

PROVIDER: S-EPMC12284884 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature