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3.
Exp Dermatol ; 33(3): e15050, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38469984

RESUMO

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic mutation) syndrome is a novel autoinflammatory, late-onset, disorder first identified in 2020. It is caused by mutations in the UBA1 gene. The most prominent clinical features reported by VEXAS patients are cutaneous and haematological, having characteristic skin features reported as the initial presenting findings of the disease. VEXAS is a severe and treatment-resistant condition with high morbidity and mortality rates. Here, we examine all case reports and case series of VEXAS syndrome through March 2023 focusing on those presenting cutaneous manifestations. We discuss these manifestations and their reported treatment strategies. In many cases, it might be first suspected and diagnosed by dermatologists, highlighting their vital role in initiating timely multidisciplinary care.


Assuntos
Doenças Hereditárias Autoinflamatórias , Síndromes Mielodisplásicas , Dermatopatias Genéticas , Humanos , Mutação , Pele , Síndrome , Doenças Hereditárias Autoinflamatórias/genética , Doenças Hereditárias Autoinflamatórias/terapia
4.
Photodermatol Photoimmunol Photomed ; 40(2): e12958, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38489300

RESUMO

BACKGROUND/PURPOSE: Vitiligo is a depigmenting disorder that affects up to 2% of the population. Due to the relatively high prevalence of this disease and its psychological impact on patients, decisions concerning treatment can be difficult. As patients increasingly seek health information online, the caliber of online health information (OHI) becomes crucial in patients' decisions regarding their care. We aimed to assess the quality and readability of OHI regarding phototherapy in the management of vitiligo. METHODS: Similar to previously published studies assessing OHI, we used 5 medical search terms as a proxy for online searches made by patients. Results for each search term were assessed using an enhanced DISCERN analysis, Health On the Net code of conduct (HONcode) accreditation guidelines, and several readability indices. The DISCERN analysis is a validated questionnaire used to assess the quality of OHI, while HONcode accreditation is a marker of site reliability. RESULTS: Of the 500 websites evaluated, 174 were HONcode-accredited (35%). Mean DISCERN scores for all websites were 58.9% and 51.7% for website reliability and treatment sections, respectively. Additionally, 0/130 websites analyzed for readability scored at the NIH-recommended sixth-grade reading level. CONCLUSION: These analyses shed light on the shortcomings of OHI regarding phototherapy treatment for vitiligo, which could exacerbate disparities for patients who are already at higher risk of worse health outcomes.


Assuntos
Informação de Saúde ao Consumidor , Vitiligo , Humanos , Compreensão , Vitiligo/terapia , Reprodutibilidade dos Testes , Fototerapia , Internet
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