Autor(es):
Fialho, Maria C ; Garrido, Pedro M ; Santos-Coelho, Miguel ; Ferreirinha, Ana ; Martins, Bárbara D ; Passos, João ; Moura, Cecília
Data: 2025
Identificador Persistente: http://hdl.handle.net/10400.17/5183
Origem: Repositório do Centro Hospitalar de Lisboa Central, EPE
Assunto(s): HSAC DER; Adolescent; Adult; Aged; Female; Humans; Male; Middle Aged; Cross-Sectional Studies; Hyperpigmentation* / etiology; Hyperpigmentation* / pathology; Hypopigmentation* / etiology; Hypopigmentation* / pathology; Neurilemmoma* / pathology; Neurofibromatosis 2* / complications; Neurofibromatosis 2* / pathology; Quality of Life; Skin Neoplasms* / epidemiology; Skin Neoplasms* / etiology; Skin Neoplasms* / pathology; Young Adult; HSAC DER; HSAC DER; Adolescent; Adolescent; Adult; Adult; Aged; Aged; Female; Female; Humans; Humans; Male; Male; Middle Aged; Middle Aged; Cross-Sectional Studies; Cross-Sectional Studies; Hyperpigmentation* / etiology; Hyperpigmentation* / etiology; Hyperpigmentation* / pathology; Hyperpigmentation* / pathology; Hypopigmentation* / etiology; Hypopigmentation* / etiology; Hypopigmentation* / pathology; Hypopigmentation* / pathology; Neurilemmoma* / pathology; Neurilemmoma* / pathology; Neurofibromatosis 2* / complications; Neurofibromatosis 2* / complications; Neurofibromatosis 2* / pathology; Neurofibromatosis 2* / pathology; Quality of Life; Quality of Life; Skin Neoplasms* / epidemiology; Skin Neoplasms* / epidemiology; Skin Neoplasms* / etiology; Skin Neoplasms* / etiology; Skin Neoplasms* / pathology; Skin Neoplasms* / pathology; Young Adult; Young Adult
Descrição
Background: 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.
