VEXAS syndrome: A review of cutaneous findings and treatments in an emerging autoinflammatory disease.

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.

Phototherapy for vitiligo: Quality and readability of online health information.

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.

Cutaneous findings and treatments in deficiency of interleukin-36 receptor antagonist (DITRA): A review of the literature.

Deficiency of the interleukin-36 receptor antagonist (DITRA) is a rare autoinflammatory disorder caused by mutations in the IL36RN gene. This mutation leads to a lack of functional interleukin-36 receptor antagonists (IL-36Ra), which results in an overactive immune system and chronic inflammation. Despite its rarity, numerous case series and individual reports in the literature emphasize the importance of recognizing and managing DITRA. Early identification of the cutaneous signs of DITRA is crucial for accurate diagnosis and timely administration of appropriate treatment. This review article provides a comprehensive overview of the current understanding of the cutaneous, non-cutaneous and histopathological manifestations of DITRA, with a focus on reported treatments. The disease typically presents in early childhood, although the age of onset can vary. Patients with DITRA exhibit recurrent episodes of skin inflammation, often with a pustular or pustular psoriasis-like appearance. Additionally, non-cutaneous manifestations are common, with recurrent fevers and elevated acute-phase reactants being the most prevalent. The exact prevalence of DITRA is unknown. Some cases of loss-of-function mutations in the IL36RN gene, considered a hallmark for diagnosis, have been identified in patients with familial generalized pustular psoriasis (GPP). Biological therapies with inhibition of IL-12/23 and IL-17 are promising treatment options; paediatric patients with DITRA have shown complete response with mild relapses. New and emerging biologic therapeutics targeting the IL-36 pathway are also of interest in the management of this rare autoinflammatory disorder.

Pyoderma gangrenosum and impact on quality of life: A narrative review.

Pyoderma gangrenosum (PG) is an autoinflammatory disorder typically characterized by progressive ulcers with dense neutrophilic infiltrates in the absence of infectious causes. The chronic nature of this disease significantly impacts the patients' quality of life (QoL). Yet there is currently a dearth of information in the literature regarding standardised treatment guidelines and the impact of PG on patients' QoL. We conducted a literature search on PubMed using the terms "pyoderma gangrenosum" AND "quality of life." We identified nine relevant articles that provide insight into which domains are affected and what treatment can improve QoL. The most common domains involved are physical, emotional, and psychological. Patients tend to feel depressed/anxious, isolated, and embarrassed secondary to PG manifestations. Comorbidities such as Crohn's disease, monoclonal gammopathy of dermatologic significance, and ulcerative colitis can worsen the impact on these patients' QoL. Pain is also a significant contributor to decreasing patients' QoL. Treatments such as topical steroids, adalimumab, and canakinumab may help improve QoL scores. We believe this information can help clinicians guide the care of patients with PG and highlight the need for more studies and clinical trials focusing on PG treatments' impact on QoL.

Generalized pustular psoriasis-like widespread eruption following COVID-19 infection in a patient with spondyloarthropathy on adalimumab.

Generalized pustular psoriasis (GPP) is a form of pustular psoriasis that is distinguished by recurring or persistent outbreaks of non-acral primary sterile pustules. These eruptions can occur with or without systemic inflammation. Various factors, such as medications, stress and viral infection, have been identified as potential triggers for GPP flares. While several cases have detailed GPP-like eruptions in the setting of coronavirus disease 2019 (COVID-19) infection, few have explored the interplay between infection and biologic use in the development of GPP. In this case, we detail the history and management of a 45-year-old male patient with a prior history of spondyloarthropathy managed on a tumour necrosis factor-α inhibitor and recent COVID-19 infection presenting with a new, spreading pustular rash.

A focused review of visible light therapies for vitiligo.

BACKGROUND: Vitiligo can be challenging to treat and exhibit an unpredictable clinical course. Phototherapy in the form of visible light can achieve both repigmentation and depigmentation outcomes in vitiligo, with minimal associated adverse events. This review focuses on the mechanistic understandings and clinical outcomes of visible light-based treatments for vitiligo. METHODS: Articles were retrieved from PubMed starting from May 1965 until August 2023, yielding 496 unique articles. We conducted title, abstract, and full-text screening to identify articles describing the use of visible light (380-750 nm), either as part of combination therapy or as monotherapy, for repigmentation or depigmentation treatment in vitiligo. RESULTS: Twenty-seven articles met inclusion criteria, offering preclinical and clinical data regarding the utilization of helium-neon laser (red light) and blue light-emitting diodes (LEDs) as methods of repigmentation therapy in vitiligo. Preclinical and clinical data on the utilization of Q-switched ruby laser (694 nm) and frequency-doubled (FD) Nd:YAG laser (532 nm) for vitiligo depigmentation therapy were also identified. CONCLUSION: While limited by small studies and a lack of standardized administration of phototherapy, the evidence for visible light's effectiveness in managing vitiligo is encouraging. Red light therapy using He-Ne lasers and blue light therapy via LEDs can stimulate repigmentation in patients with vitiligo with minimal adverse events. Q-switched ruby and FD Nd:YAG lasers provide viable, visible light depigmentation options, either alone or with topical agents. With limited clinical data, larger studies are needed to validate the efficacy of visible light therapy in treating vitiligo and to better understand its long-term outcomes.