The Journal of dermatology最新文献

Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare genetic disorders. There are limited data regarding how these disorders are managed in real-world settings. The aim of this study was to document the characteristics and treatment patterns among patients diagnosed with EPP or XLP in general real-world settings in the United States. We, therefore, conducted a retrospective medical record review of patients diagnosed with EPP or XLP on or before July 1, 2020. Data were analyzed for patients with EPP (n = 299) and XLP (n = 91). Outcomes included demographic and clinical characteristics, diagnostic testing, therapy recommendations, office visits, emergency department visits, and hospitalizations. Costs were assigned to healthcare resources. Mean (standard deviation [SD]; median) time between the first symptom documented in the medical records and diagnosis was 2.9 (5.1; 1.3) years. The most common pre-diagnostic tests were liver function, total plasma and erythrocyte protoporphyrin, genetic tests, and renal function. Patients were advised to use sunscreen (85%) or modify their lifestyle (83%). Within 12 months of diagnosis, the mean (SD; median) number of office visits, emergency department visits, and inpatient hospitalizations related to EPP or XLP were 4.0 (3.5; 3.0), 0.8 (1.6; 0), and 0.4 (1.3; 0), respectively. Patients with EPP or XLP have several unmet needs, including timely and accurate diagnosis, symptom relief, and efficacious prevention of phototoxic reactions.

Nagashima-type palmoplantar keratosis (NPPK) has been shown to represent a form of autosomal recessive palmoplantar keratosis due to biallelic pathological variants of SERPINB7, which encodes a serine protease inhibitor expressed in the epidermis. Approximately 10 years have elapsed since NPPK was demonstrated to be an independent genetic disease, and the most prevalent palmoplantar keratoderma (PPK) in East Asian countries due to a high prevalence of founder mutations in SERPINB7. Since then, it has become evident that biallelic pathological variants of SERPINA12, which encodes a serine protease inhibitor expressed in the epidermis, can also manifest symptoms analogous to those of NPPK. Furthermore, a pathological variant of SERPINB7 was identified as a risk factor for the development of atopic dermatitis in a genome-wide association study (GWAS) of atopic dermatitis, indicating that the frequent co-occurrence of NPPK and atopic dermatitis is not a mere coincidence. Despite the documentation of NPPK cases in Japan since the 1970s, there have been no reports of individuals with similar symptoms from other regions, including Europe and the USA. Consequently, the existence and independence of the disease remained uncertain until its genetic cause was identified. The disease's independence was established through the accumulation of data on affected individuals, including the provision of accurate descriptions of their symptoms, which enabled the identification of the genetic cause. This review presents a comprehensive overview of the history and prospects of NPPK with a particular focus on the history of the process of establishing NPPK as an independent disease.

The long-term complications of coronavirus disease 2019 (COVID-19) continue to cause global concern. This study aimed to estimate the incidence and risk of chronic urticaria, vitiligo, alopecia areata, and herpes zoster following COVID-19 infection. Only participants confirmed by real-time reverse transcription-polymerase chain reaction tests to have COVID-19 were enrolled in the COVID-19 group. The matched cohort without COVID-19 was enrolled randomly at a ratio of 1:1. The incidence and risk of chronic urticaria, vitiligo, alopecia areata, and herpes zoster were assessed in both groups using univariable and multivariable Cox proportional hazard analyses. A total of 4 976 589 COVID-19 patients (9.58% of the total population of South Korea) and an equivalent number of matched non-infected control subjects were analyzed. Chronic urticaria, vitiligo, alopecia areata, and herpes zoster manifested at higher rates within the COVID-19 cohort, even after multivariable adjustment for potential confounders. COVID-19 may increase the risk of developing chronic urticaria, vitiligo, alopecia areata, and herpes zoster.

The tyrosine kinase 2 inhibitor deucravacitinib is therapeutically effective for psoriasis. However, predictive factors for high responses to deucravacitinib have not been examined in a real-world clinical study. Our study aimed to identify predictive factors for responders to deucravacitinib. Therefore, a retrospective study was conducted on 74 patients with psoriasis treated with deucravacitinib (6 mg/day) at week 16 of treatment from January 2023 to February 2024. Patients were classified into responders (achievers of a static Physician's Global Assessment [sPGA] of 0 or 1 with ≥2-point improvement from basal sPGA) and non-responders (non-achievers). We compared baseline values of clinical and laboratory indexes between responders and non-responders. Multivariate logistic regression analysis was used to identify variables predicting responders. Forty-one patients (55.4%) were considered as responders at week 16. Multivariate logistic regression analysis revealed that the response to deucravacitinib was associated with higher age (odds ratio [OR] 1.04; 95% confidence interval [CI] 1.01-1.08; p = 0.0222) and lower body mass index (BMI) (OR 0.825; 95% CI 0.713-0.955; p = 0.0101). Higher age and lower BMI may predict a higher response to deucravacitinib (6 mg/day) at week 16 of treatment.

Phasing, the process of determining which alleles at different loci on homologous chromosomes belong together on the same chromosome, is crucial in the diagnosis and management of autosomal recessive diseases. Advances in long-read sequencing technologies have significantly enhanced our ability to accurately determine haplotypes. This review discusses the application of low-coverage long-read sequencing, nanopore Cas9-guided long-read sequencing, and adaptive sampling in phasing, highlighting their utility in complex clinical scenarios. Through clinical vignettes, we explore the importance of phasing in gene therapy design for recessive dystrophic epidermolysis bullosa and the role of revertant mosaicism in therapeutic epidermal autografts. Despite its promise, phasing with long-read sequencing faces challenges, including low efficiency in enriching target regions and the inherent error rate of nanopore sequencing. Future developments in long-read sequencing technologies will be critical in overcoming these limitations and expanding the applicability of phasing across various clinical settings.