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Spectrum of Cutaneous Lesions in a Cohort of Patients With Neurofibromatosis Type 2.

2025-02Text Open access
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dc.contributor.authorFialho, Maria C
dc.contributor.authorGarrido, Pedro M
dc.contributor.authorSantos-Coelho, Miguel
dc.contributor.authorFerreirinha, Ana
dc.contributor.authorMartins, Bárbara D
dc.contributor.authorPassos, João
dc.contributor.authorMoura, Cecília
dc.date.accessioned2025-09-26T15:04:00Z
dc.date.available2025-09-26T15:04:00Z
dc.date.issued2025-02
dc.description.abstractBackground: 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 70-95% 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-up. Methods: An observational cross-sectional 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-5D questionnaires were applied to evaluate the impact on quality of life. Results: Nineteen patients with a mean age of 36 years 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). Conclusions: 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.eng
dc.identifier.citationInt J Dermatol . 2025 Feb;64(2):390-398. doi: 10.1111/ijd.17354.
dc.identifier.doi10.1111/ijd.17354.
dc.identifier.pmid38955458
dc.identifier.urihttp://hdl.handle.net/10400.17/5183
dc.language.isoeng
dc.peerreviewedyes
dc.publisherWiley
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectHSAC DER
dc.subjectAdolescent
dc.subjectAdult
dc.subjectAged
dc.subjectFemale
dc.subjectHumans
dc.subjectMale
dc.subjectMiddle Aged
dc.subjectCross-Sectional Studies
dc.subjectHyperpigmentation* / etiology
dc.subjectHyperpigmentation* / pathology
dc.subjectHypopigmentation* / etiology
dc.subjectHypopigmentation* / pathology
dc.subjectNeurilemmoma* / pathology
dc.subjectNeurofibromatosis 2* / complications
dc.subjectNeurofibromatosis 2* / pathology
dc.subjectQuality of Life
dc.subjectSkin Neoplasms* / epidemiology
dc.subjectSkin Neoplasms* / etiology
dc.subjectSkin Neoplasms* / pathology
dc.subjectYoung Adult
dc.titleSpectrum of Cutaneous Lesions in a Cohort of Patients With Neurofibromatosis Type 2.eng
dc.typetext
dspace.entity.typePublication
oaire.citation.endPage398
oaire.citation.issue2
oaire.citation.startPage390
oaire.citation.titleInternational Journal of Dermatology
oaire.citation.volume64
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85

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