作者
Eric Legius,Ludwine Messiaen,Pierre Wolkenstein,Patrice Pancza,R. A. Avery,Yemima Berman,Jaishri O. Blakeley,Dusica Babovic‐Vuksanovic,KS Cunha,R E Ferner,MJ Fisher,Jan M. Friedman,DH Gutmann,Hildegard Kehrer‐Sawatzki,BR Korf,Mautner Vf,Sirkku Peltonen,K.A. Rauen,Riccardi,Elizabeth K. Schorry,Anat Stemmer‐Rachamimov,DA Stevenson,Gianluca Tadini,Ullrich Nj,David Viskochil,Katharina Wimmer,Kaleb Yohay,Alicia Gomes,JT Jordan,Mautner,Vanessa L. Merker,Margaret F. Smith,Monique Anten,Arthur S. Aylsworth,Diana Baralle,S. Barbarot,Fred G. Barker,Shay Ben‐Shachar,Amanda L. Bergner,Didier Bessis,Ignacio Blanco,Cathérine Cassiman,Patricia Ciavarelli,Maurizio Clementi,Thierry Frébourg,M Giovannini,Dorothy Halliday,Charlotte I. Hammond,C Oliver Hanemann,Heather Hanson,Arvid Heiberg,Philippe Joly,Michel Kalamaridès,Matthias A. Karajannis,D Kroshinsky,M Larralde,Conxi Lázaro,Lu Q. Le,Martyn Link,Robert Listernick,Mia MacCollin,Conor Mallucci,Christopher L. Moertel,Andréas Mueller,Joanne Ngeow,Rianne Oostenbrink,Roger J. Packer,Laura Papi,Allyson Parry,Juha Peltonen,Dominique C. Pichard,Bruce Poppe,Nilton Alves de Rezende,LO Rodrigues,Tena Rosser,Martino Ruggieri,Eduard Serra,Steinke-Lange,Stavros Stivaros,Ashley C. Taylor,Jaan Toelen,James H. Tonsgard,Eva Trevisson,Meena Upadhyaya,Ali Varan,Mary Ann Wilson,Hemmings Wu,Gelareh Zadeh,SM Huson,D. Gareth Evans,Scott R. Plotkin
摘要
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).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.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.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.