Abstract：
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.
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.
摘要：
背景：2型神经纤维瘤病（NF2）是一种罕见的常染色体显性综合征，具有中枢神经系统肿瘤发展的易感性，眼科表现,和皮肤病变。后者存在于70-95％的患者中，并且可以先于其他肿瘤的演变。然而,它们不包括在诊断标准中,并且在随访期间经常被低估.
方法：进行了一项观察性横断面研究，研究了一组NF2患者的皮肤病变特征。进行了皮肤病学检查，和病变被分类为神经皮肤肿瘤(浅表，SNCT,和深,DNCT),色素沉着斑（HyperP），和低色素斑块（HypoP）。应用皮肤病学生活质量指数(DLQI)和EQ-5D问卷评价其对生活质量的影响。
结果：纳入19例患者，平均年龄36岁。16例（84%）患者有皮肤病变，大多数是在诊断前10年或更长时间发展的。SNCT,DNCT,和HyperP表现出相似的频率(58%)。仅在一名患者中观察到低P。HyperP发达，平均而言,早于NCT（9.6vs.16.5SNCT,17.0DNCT；年）。切除的病变有不同的组织学模式，包括神经纤维瘤,神经鞘瘤,和杂种肿瘤.大多数患者报告皮肤表现对生活质量的影响较低（DLQI0或1）。
结论：NF2中皮肤病变是常见的，可能比诊断早几年。它们的鉴定对于早期建立诊断并潜在地降低发病率和死亡率是重要的。
方法：进行了一项观察性横断面研究，研究了一组NF2患者的皮肤病变特征。进行了皮肤病学检查，和病变被分类为神经皮肤肿瘤(浅表，SNCT,和深,DNCT),色素沉着斑（HyperP），和低色素斑块（HypoP）。应用皮肤病学生活质量指数(DLQI)和EQ-5D问卷评价其对生活质量的影响。
结果：纳入19例患者，平均年龄36岁。16例（84%）患者有皮肤病变，大多数是在诊断前10年或更长时间发展的。SNCT,DNCT,和HyperP表现出相似的频率(58%)。仅在一名患者中观察到低P。HyperP发达，平均而言,早于NCT（9.6vs.16.5SNCT,17.0DNCT；年）。切除的病变有不同的组织学模式，包括神经纤维瘤,神经鞘瘤,和杂种肿瘤.大多数患者报告皮肤表现对生活质量的影响较低（DLQI0或1）。
结论：NF2中皮肤病变是常见的，可能比诊断早几年。它们的鉴定对于早期建立诊断并潜在地降低发病率和死亡率是重要的。
