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Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

2021; Elsevier BV; Volume: 23; Issue: 8 Linguagem: Inglês

10.1038/s41436-021-01170-5

1530-0366

Eric Legius, Ludwine Messiaen, P. Wolkenstein, Patrice Pancza, Robert A. Avery, Yemima Berman, Jaishri O. Blakeley, Dusica Babovic‐Vuksanovic, Karin Soares Cunha, Rosalie E. Ferner, Michael J. Fisher, Jan M. Friedman, David H. Gutmann, Hildegard Kehrer‐Sawatzki, Bruce R. Korf, Victor‐Felix Mautner, Sirkku Peltonen, Katherine A. Rauen, Vincent M. Riccardi, Elizabeth K. Schorry, Anat Stemmer‐Rachamimov, David A. Stevenson, Gianluca Tadini, Nicole J. Ullrich, David Viskochil, Katharina Wimmer, Kaleb Yohay, Alicia Gomes, Justin T. Jordan, Victor Mautner, Vanessa L. Merker, Miriam J. Smith, David A. Stevenson, Monique Anten, Arthur S. Aylsworth, Diana Baralle, S. Barbarot, Fred G. Barker, Shay Ben‐Shachar, Amanda Bergner, D. Bessis, Ignacio Blanco, Cathérine Cassiman, Patricia Ciavarelli, Maurizio Clementi, Thierry Frébourg, Marco Giovannini, Dorothy Halliday, Chris Hammond, C. Oliver Hanemann, Helen Hanson, Arvid Heiberg, K.H. Ly, Michel Kalamarides, Matthias A. Karajannis, Daniela Kroshinsky, Margarita Larralde, Conxi Lázaro, Lu Q. Le, Michael P. Link, Robert Listernick, Mia MacCollin, Conor Mallucci, Christopher L. Moertel, Amy Mueller, Joanne Ngeow, Rianne Oostenbrink, Roger J. Packer, Laura Papi, Allyson Parry, Juha Peltonen, Dominique C. Pichard, Bruce Poppe, Nilton Alves de Rezende, Luiz Oswaldo Carneiro Rodrigues, Tena Rosser, Martino Ruggieri, Eduard Serra, Verena Steinke‐Lange, Stavros Stivaros, Amy Taylor, Jaan Toelen, James H. Tonsgard, Eva Trevisson, Meena Upadhyaya, Ali Varan, Meredith Wilson, Hao Wu, Gelareh Zadeh, Susan Huson, D. Gareth Evans, Scott R. Plotkin,

Vascular Malformations and Hemangiomas

PurposeBy 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).MethodsWe used a multistep process, beginning with a Delphi method involving global experts and subsequently involving non-NF experts, patients, and foundations/patient advocacy groups.ResultsWe 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.ConclusionThe 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.Graphical AbstractView Large Image Figure ViewerDownload Hi-res image Download (PPT)