Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
Mautner Victor-Felix; Schorry Elizabeth; Rauen Katherine A; Riccardi Vincent; Babovic-Vuksanovic Dusica; Stemmer-Rachamimov Anat; Evans D Gareth; Friedman Jan M; Legius Eric; Fisher Michael J; Pancza Patrice; Yohay Kaleb; Peltonen Sirkku; Gutmann David H; Stevenson David A; Huson Susan M; Cunha Karin Soares; Kehrer-Sawatzki Hildegard; Plotkin Scott R; International Consensus Group on Neurofibromatosis Diagnostic Criteria(I-NF-DC); Berman Yemima; Ferner Rosalie; Korf Bruce R; Wolkenstein Pierre; Tadini Gianluca; Blakeley Jaishri; Ullrich Nicole J; Avery Robert A; Messiaen Ludwine; Viskochil David; Wimmer Katharina
https://urn.fi/URN:NBN:fi-fe2021100750328
Tiivistelmä
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.
Kokoelmat
- Rinnakkaistallenteet [19207]