ORCID
- Hanemann, Oliver: 0000-0002-1951-1025
Abstract
Abstract Purpose By incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to establish diagnostic criteria for Legius syndrome (LGSS). Methods We used a multistep process, beginning with a Delphi method involving global experts and subsequently involving non-NF experts, patients, and foundations/patient advocacy groups. Results We reached consensus on the minimal clinical and genetic criteria for diagnosing and differentiating NF1 and LGSS, which have phenotypic overlap in young patients with pigmentary findings. Criteria for the mosaic forms of these conditions are also recommended. Conclusion The revised criteria for NF1 incorporate new clinical features and genetic testing, whereas the criteria for LGSS were created to differentiate the two conditions. It is likely that continued refinement of these new criteria will be necessary as investigators (1) study the diagnostic properties of the revised criteria, (2) reconsider criteria not included in this process, and (3) identify new clinical and other features of these conditions. For this reason, we propose an initiative to update periodically the diagnostic criteria for NF1 and LGSS.
DOI
10.1038/s41436-021-01170-5
Publication Date
2021-08-01
Publication Title
Genetics in Medicine
Volume
23
Issue
8
ISSN
1098-3600
Embargo Period
2021-10-16
Organisational Unit
Peninsula Medical School
First Page
1506
Last Page
1513
Recommended Citation
Legius, E., Messiaen, L., Wolkenstein, P., Pancza, P., Avery, R., Berman, Y., Blakeley, J., Babovic-Vuksanovic, D., Cunha, K., Ferner, R., Fisher, M., Friedman, J., Gutmann, D., Kehrer-Sawatzki, H., Korf, B., Mautner, V., Peltonen, S., Rauen, K., Riccardi, V., Schorry, E., Stemmer-Rachamimov, A., Stevenson, D., Tadini, G., Ullrich, N., Viskochil, D., Wimmer, K., Yohay, K., Gomes, A., Jordan, J., Mautner, V., Merker, V., Smith, M., Stevenson, D., Anten, M., Aylsworth, A., Baralle, D., Barbarot, S., Barker, F., Ben-Shachar, S., Bergner, A., & Bessis, D. (2021) 'Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation', Genetics in Medicine, 23(8), pp. 1506-1513. Available at: https://doi.org/10.1038/s41436-021-01170-5
