{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T22:44:22Z","timestamp":1776206662399,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,7,2]],"date-time":"2024-07-02T00:00:00Z","timestamp":1719878400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J Dermatology"],"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Neurofibromatosis type 2 (NF2) is a rare autosomal dominant syndrome with a predisposition to the development of central nervous system tumors, ophthalmic manifestations, and dermatological lesions. The latter are present in 70\u201395% of patients and can precede the evolution of other tumors. However, they are not included in the diagnostic criteria and are frequently undervalued during follow\u2010up.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>An observational cross\u2010sectional study characterizing cutaneous lesions in a cohort of NF2 patients was carried out. Dermatological examinations were performed, and lesions were classified into neural cutaneous tumors (superficial, SNCT, and deep, DNCT), hyperpigmented patches (HyperP), and hypopigmented patches (HypoP). The Dermatology Life Quality Index (DLQI) and EQ\u20105D questionnaires were applied to evaluate the impact on quality of life.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Nineteen patients with a mean age of 36\u2009years were included. Sixteen (84%) patients had cutaneous lesions, mostly developed 10 or more years before the diagnosis. SNCT, DNCT, and HyperP showed similar frequencies (58%). HypoP were observed in only one patient. HyperP developed, on average, earlier than NCT (9.6 vs. 16.5 SNCT, 17.0 DNCT; years). The excised lesions had different histological patterns, including neurofibromas, schwannomas, and a hybrid tumor. Most patients reported a low impact of cutaneous manifestations on the quality of life (DLQI 0 or 1).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Cutaneous lesions are frequent in NF2 and may precede the diagnosis by several years. Their identification is important to establish the diagnosis earlier and potentially reduce morbidity and mortality.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ijd.17354","type":"journal-article","created":{"date-parts":[[2024,7,3]],"date-time":"2024-07-03T01:10:18Z","timestamp":1719969018000},"page":"390-398","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Spectrum of cutaneous lesions in a cohort of patients with neurofibromatosis type 2"],"prefix":"10.1111","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-9498-809X","authenticated-orcid":false,"given":"Maria C.","family":"Fialho","sequence":"first","affiliation":[{"name":"Dermatovenereology Department Santo Ant\u00f3nio dos Capuchos Hospital, Local Health Unit S\u00e3o Jos\u00e9  Lisbon Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1048-3056","authenticated-orcid":false,"given":"Pedro M.","family":"Garrido","sequence":"additional","affiliation":[{"name":"Dermatology Department Portuguese Institute of Oncology Francisco Gentil  Lisbon Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2288-7306","authenticated-orcid":false,"given":"Miguel","family":"Santos\u2010Coelho","sequence":"additional","affiliation":[{"name":"Dermatovenereology Department Santo Ant\u00f3nio dos Capuchos Hospital, Local Health Unit S\u00e3o Jos\u00e9  Lisbon Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-1336-3923","authenticated-orcid":false,"given":"Ana","family":"Ferreirinha","sequence":"additional","affiliation":[{"name":"Dermatovenereology Department Santo Ant\u00f3nio dos Capuchos Hospital, Local Health Unit S\u00e3o Jos\u00e9  Lisbon Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-0800-2031","authenticated-orcid":false,"given":"B\u00e1rbara D.","family":"Martins","sequence":"additional","affiliation":[{"name":"Pathological Anatomy Department Portuguese Institute of Oncology Francisco Gentil  Lisbon Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9184-3617","authenticated-orcid":false,"given":"Jo\u00e3o","family":"Passos","sequence":"additional","affiliation":[{"name":"Neurology Department Portuguese Institute of Oncology Francisco Gentil  Lisbon Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6968-1447","authenticated-orcid":false,"given":"Cec\u00edlia","family":"Moura","sequence":"additional","affiliation":[{"name":"Dermatology Department Portuguese Institute of Oncology Francisco Gentil  Lisbon Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,7,2]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-4-16"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(09)60259-2"},{"issue":"304","key":"e_1_2_6_4_1","first-page":"603","article-title":"A clinical study of type 2 neurofibromatosis","volume":"84","author":"Evans DG","year":"1992","journal-title":"Q J Med"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.05.007"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ad.2016.12.007"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320520411"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-020-04729-w"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1997.03890480059008"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-022-02379-6"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.18190"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2017-313154"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2005-837581"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pedhc.2019.05.001"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0035711"},{"issue":"6","key":"e_1_2_6_16_1","first-page":"454","article-title":"An update on neurofibromatosis type 1: not just Caf\u00e9\u2010au\u2010Lait spots, freckling, and neurofibromas. an update. 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