皮肤神经纤维瘤与 1 型神经纤维瘤成人患者的生活质量。

IF 11.5 1区 医学 Q1 DERMATOLOGY JAMA dermatology Pub Date : 2024-10-01 DOI:10.1001/jamadermatol.2024.2912
Michelle Jade Lin, Hanqi Yao, Katya Vera, Ekshika Patel, Mandi Johnson, Peter Caroline, Jeanie Ramos, Jasmine Mehta, Xing Hu, Jaishri O Blakeley, Carlos G Romo, Kavita Y Sarin
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引用次数: 0

摘要

重要性:皮肤神经纤维瘤(cNFs)是导致 1 型神经纤维瘤病(NF1)患者发病的一个主要原因,目前人们对皮肤神经纤维瘤的治疗开发兴趣日渐浓厚。为了确定有意义的临床试验结果,需要深入了解 cNFs 与生活质量 (QoL) 的关系。然而,由于招募患有这种罕见遗传病的参与者存在困难,这种理解受到了阻碍:目的:建立一个大型的、经多方验证的 NF1 患者登记册,并确定 cNF 的特定特征与 QoL、疼痛和瘙痒的关联:从 2021 年 5 月到 2023 年 12 月,我们开发了一个分散式平台,并从 49 个州和 12 个国家招募了 40 岁或以上的 NF1 患者和至少 1 名 cNF 患者,他们提供了临床调查数据、详细照片和基因测序数据。对 583 名参与者的照片进行了 12 项 cNF 特征评分,包括一般严重程度、数量、大小、面部严重程度、颜色和亚型:主要结果和测量:Skindex 总分和子域得分(症状、情绪、功能、疼痛和痒):在 583 名参与者中,384 人(65.9%)为女性,平均年龄为 51.7(40.0-83.0)岁。女性性别、cNFs 的总体严重程度、数量、大小和面部严重程度与 QoL 呈负相关,Skindex 总分的增加证明了这一点。QoL 与 cNFs 的数量和面部 cNFs 的存在关系最大。cNFs 数量的增加与 QoL 的恶化有关,即使是 cNF 负担较低的个体也是如此(结论和相关性:本研究结果表明,减少 cNF 数量,尤其是面部 cNF 数量,可能与改善 NF1 患者的 QoL 有关。此外,在出现大量肿瘤之前进行早期干预,可能会使 QoL 受益最大。这些数据有可能让我们深入了解哪些患者和 cNF 肿瘤可能从治疗中获益最多,并凸显了针对罕见遗传病进行完全分散、照片验证和年龄控制研究的实用性。在 NF1 实现完全表型表达后,该队列将允许对疾病和肿瘤异质性进行分析,并有可能成为其他罕见疾病的设计范例,因为这些疾病的患者招募困难。
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Cutaneous Neurofibromas and Quality of Life in Adults With Neurofibromatosis Type 1.

Importance: There is a burgeoning interest in therapeutic development for cutaneous neurofibromas (cNFs), a major cause of morbidity in persons with neurofibromatosis type 1 (NF1). To determine meaningful clinical trial outcomes, deeper understanding is needed regarding how cNFs are associated with quality of life (QoL). However, this understanding has been hampered by challenges in recruiting participants with this rare genetic disease.

Objective: To develop a large, crowdsourced validated registry of persons with NF1 and determine the association of specific cNF features with QoL, pain, and itch.

Design, setting, and participants: From May 2021 to December 2023, a decentralized platform was developed and recruited persons 40 years or older with NF1 and at least 1 cNF from 49 states and 12 countries, who provided clinical survey data, detailed photographs, and genetic sequencing data. Photographs from 583 participants were scored on 12 features of cNFs, including general severity, number, size, facial severity, color, and subtypes.

Exposure: cNF features derived from participant-supplied photographs.

Main outcomes and measures: Total Skindex scores and subdomain scores (symptoms, emotion, function, pain, and itch).

Results: Of 583 participants, 384 (65.9%) were female, and the mean (range) age was 51.7 (40.0-83.0) years. Female sex, general severity, number, size, and facial severity of cNFs were negatively associated with QoL, as demonstrated by increased total Skindex scores. QoL had the largest association with the number of cNFs and presence of facial cNFs. Increasing number of cNFs was associated with worse QoL, and even individuals with a low cNF burden (<10 total cNFs) experienced a decrease in QoL.

Conclusions and relevance: The results of this study suggest that reducing cNF number, particularly on the face, may be associated with improved QoL in individuals with NF1. In addition, early intervention before the development of numerous tumors may lead to the highest benefit in QoL. These data potentially provide insight into which individuals and cNF tumors may benefit most from therapy and highlights the utility of a completely decentralized, photograph-validated and age-controlled study for rare genetic disease. This cohort will allow analysis of disease and tumor heterogeneity after full phenotypic expression is achieved in NF1 and potentially serves as an example in its design for other rare diseases that struggle from poor recruitment.

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来源期刊
JAMA dermatology
JAMA dermatology DERMATOLOGY-
CiteScore
14.10
自引率
5.50%
发文量
300
期刊介绍: JAMA Dermatology is an international peer-reviewed journal that has been in continuous publication since 1882. It began publication by the American Medical Association in 1920 as Archives of Dermatology and Syphilology. The journal publishes material that helps in the development and testing of the effectiveness of diagnosis and treatment in medical and surgical dermatology, pediatric and geriatric dermatology, and oncologic and aesthetic dermatologic surgery. JAMA Dermatology is a member of the JAMA Network, a consortium of peer-reviewed, general medical and specialty publications. It is published online weekly, every Wednesday, and in 12 print/online issues a year. The mission of the journal is to elevate the art and science of health and diseases of skin, hair, nails, and mucous membranes, and their treatment, with the aim of enabling dermatologists to deliver evidence-based, high-value medical and surgical dermatologic care. The journal publishes a broad range of innovative studies and trials that shift research and clinical practice paradigms, expand the understanding of the burden of dermatologic diseases and key outcomes, improve the practice of dermatology, and ensure equitable care to all patients. It also features research and opinion examining ethical, moral, socioeconomic, educational, and political issues relevant to dermatologists, aiming to enable ongoing improvement to the workforce, scope of practice, and the training of future dermatologists. JAMA Dermatology aims to be a leader in developing initiatives to improve diversity, equity, and inclusion within the specialty and within dermatology medical publishing.
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