Spinal deformity in neurofibromatosis type 1

Background With a prevalence of up to 60%, spinal deformity represents the most common skeletal manifestation of neurofibromatosis type 1. The deformity can occur as a non-dystrophic or as a less common dystrophic type. This distinction is of great relevance because the therapeutic strategy is completely different in each case. Non-dystrophic type The non-dystrophic type can be treated like idiopathic scoliosis due to the comparable behavior of both entities. However, care must be taken regarding the so-called modulation. Modulation describes the formation of dysplasias of the spine. This will result in a progression behavior as known from the dystrophic type. Dystrophic type For the dystrophic type, different spinal dysplastic changes are typical. These lead to a rapid progression of deformity and a lack of response to conservative treatment. If untreated, severe and grotesque deformities can arise. This type of deformity requires early surgical intervention, even in childhood. The knowledge about the peculiarities of this disease in general, as well as the typical changes of the spine are prerequisites to managing these often-challenging situations.