{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T04:08:50Z","timestamp":1773806930186,"version":"3.50.1"},"reference-count":23,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,3,1]],"date-time":"2022-03-01T00:00:00Z","timestamp":1646092800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acad Dermatol Venereol"],"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Neurofibromatosis 1 (NF1) is one of the most common inherited disorders characterized by mutations in the tumour suppressor gene <jats:italic>NF1<\/jats:italic>. Its clinical manifestations are highly variable and unpredictable. A specific <jats:italic>NF1<\/jats:italic> mutation does not predict the severity or complications of the disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>The objective of this study was to build an empirical classification scheme without any <jats:italic>a priori<\/jats:italic> hypotheses to identify the underlying NF1 subtypes that best explain the observed heterogeneity.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We performed latent class analysis (LCA) of 1351 consecutive NF1 patients aged &gt;17\u2009years seen between 2002 and 2014. Data and phenotypic features were collected prospectively on a standardized form.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The median age was 36.8 (17\u201381) years. A three\u2010class model showed the best fit: 706 (52%) belonged to the LC1 \u2018Cutaneous neurofibromas\u2019 class having preferentially cutaneous neurofibromas (99%), plexiform neurofibromas (63%) and blue\u2010red macules (29%); 593 (44%) belonged to the LC2 \u2018Subcutaneous neurofibromas\u2019 class characterized by the presence of at least 10 subcutaneous neurofibromas (21%) and a familial form (77%) and 52 (4%) belonged to the LC3 \u2018Dysmorphic phenotype\u2019 class characterized by dysmorphic features (78%) and learning difficulties (87%). Patients in LC1 had a higher likelihood of developing scoliosis (RR\u2009=\u20091.7, 95% confidence interval (CI) [1.2\u20132.4]). Patients in LC2 were more likely to be men (RR\u2009=\u20091.4, 95% CI [1.1\u20131.7]). Patients in LC3 were at higher risk of having an optic pathway glioma (RR\u2009=\u20094.8, 95% CI [1.9\u201311.8]) and epilepsy (RR\u2009=\u20094.5, 95% CI [1.8\u201311.6]).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our findings invite the performance of a larger cohort study to test whether the various latent classes reflect different underlying genetic modifiers of these phenotypic traits.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jdv.17974","type":"journal-article","created":{"date-parts":[[2022,1,31]],"date-time":"2022-01-31T08:42:26Z","timestamp":1643618546000},"page":"739-743","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Identification of three clinical neurofibromatosis 1 subtypes: Latent class analysis of a series of 1351 patients"],"prefix":"10.1111","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4985-6785","authenticated-orcid":false,"given":"C.","family":"Bergqvist","sequence":"first","affiliation":[{"name":"Department of Dermatology National Referral Center for Neurofibromatoses Henri\u2010Mondor Hospital Assistance Publique\u2010H\u00f4pital Paris (AP\u2010HP) Cr\u00e9teil France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Fertitta","sequence":"additional","affiliation":[{"name":"Department of Dermatology National Referral Center for Neurofibromatoses Henri\u2010Mondor Hospital Assistance Publique\u2010H\u00f4pital Paris (AP\u2010HP) Cr\u00e9teil France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5468-4589","authenticated-orcid":false,"given":"K.","family":"Ezzedine","sequence":"additional","affiliation":[{"name":"Department of Dermatology National Referral Center for Neurofibromatoses Henri\u2010Mondor Hospital Assistance Publique\u2010H\u00f4pital Paris (AP\u2010HP) Cr\u00e9teil France"},{"name":"Faculty of Medicine Universit\u00e9 Paris\u2010Est Cr\u00e9teil (UPEC) Cr\u00e9teil France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Jannic","sequence":"additional","affiliation":[{"name":"Department of Dermatology National Referral Center for Neurofibromatoses Henri\u2010Mondor Hospital Assistance Publique\u2010H\u00f4pital Paris (AP\u2010HP) Cr\u00e9teil France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O.","family":"Zehou","sequence":"additional","affiliation":[{"name":"Department of Dermatology National Referral Center for Neurofibromatoses Henri\u2010Mondor Hospital Assistance Publique\u2010H\u00f4pital Paris (AP\u2010HP) Cr\u00e9teil France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Ferkal","sequence":"additional","affiliation":[{"name":"Department of Dermatology National Referral Center for Neurofibromatoses Henri\u2010Mondor Hospital Assistance Publique\u2010H\u00f4pital Paris (AP\u2010HP) Cr\u00e9teil France"},{"name":"INSERM Centre d\u2019Investigation Clinique 1430 Assistance Publique\u2010H\u00f4pital Paris (AP\u2010HP) Henri\u2010Mondor Hospital Cr\u00e9teil France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Combemale","sequence":"additional","affiliation":[{"name":"Department of Dermatology Centre L\u00e9on B\u00e9rard Lyon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6629-9100","authenticated-orcid":false,"given":"S.","family":"Barbarot","sequence":"additional","affiliation":[{"name":"Dermatology Department Nantes Universit\u00e9 University hospital of Nantes UMR, INRAE 1280 PhAN Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6259-9790","authenticated-orcid":false,"given":"J.","family":"Mazereeuw\u2010Hautier","sequence":"additional","affiliation":[{"name":"Department of Dermatology Referral Centre for Rare Skin Diseases Toulouse University Hospital Toulouse France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1267-5270","authenticated-orcid":false,"given":"E.","family":"Sbidian","sequence":"additional","affiliation":[{"name":"Department of Dermatology National Referral Center for Neurofibromatoses Henri\u2010Mondor Hospital Assistance Publique\u2010H\u00f4pital Paris (AP\u2010HP) Cr\u00e9teil France"},{"name":"Faculty of Medicine Universit\u00e9 Paris\u2010Est Cr\u00e9teil (UPEC) Cr\u00e9teil France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Wolkenstein","sequence":"additional","affiliation":[{"name":"Department of 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