Dataset Information

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

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.

SUBMITTER: Legius E

PROVIDER: S-EPMC8354850 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature

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Publications

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

Legius Eric E Messiaen Ludwine L Wolkenstein Pierre P Pancza Patrice P Avery Robert A RA Berman Yemima Y Blakeley Jaishri J Babovic-Vuksanovic Dusica D Cunha Karin Soares KS Ferner Rosalie R Fisher Michael J MJ Friedman Jan M JM Gutmann David H DH Kehrer-Sawatzki Hildegard H Korf Bruce R BR Mautner Victor-Felix VF Peltonen Sirkku S Rauen Katherine A KA Riccardi Vincent V Schorry Elizabeth E Stemmer-Rachamimov Anat A Stevenson David A DA Tadini Gianluca G Ullrich Nicole J NJ Viskochil David D Wimmer Katharina K Yohay Kaleb K Huson Susan M SM Evans D Gareth DG Plotkin Scott R SR

Genetics in medicine : official journal of the American College of Medical Genetics 20210519 8

<h4>Purpose</h4>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).<h4>Methods</h4>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.<h4>Results</h4>We reached consensus on the minimal clinical a ...[more]

PMID: 34012067

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Dataset Information

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

Purpose

Methods

Results

Conclusion

Publications

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

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