Journal of Dermatology最新文献

Familial progressive hyperpigmentation with or without hypopigmentation (FPHH) is an autosomal dominant disorder characterized by widespread skin hyperpigmentation, café-au-lait spots, and hypopigmented circular macules, resulting from KITLG variants. KITLG, expressed by keratinocytes, binds to KIT on melanocytes, stimulating melanogenesis. Disturbances in the KITLG-KIT interaction result in diffuse hyperpigmentation in FPHH. However, the mechanisms behind hypopigmented macule formation remain unclear. This report presents a unique FPHH case in a patient with a novel KITLG mutation (Ser78Leu). Notably, the patient showed multiple hypopigmented macules and striae along the lines of Blaschko. Digital polymerase chain reaction analysis of the DNA from skin and blood tissues indicated a copy-neutral loss of heterozygosity at the KITLG locus, only in the hypopigmented macule. These findings suggest that the hypopigmented macules might result from revertant mosaicism. Conversely, café-au-lait spots do not follow the lines of Blaschko and can superimpose on the hypopigmented striae, indicating a distinct pathogenesis. This case contributes to the understanding of the genetic mechanisms in FPHH.

We aimed to analyze the clinical profile and malignancy indicators in dermatomyositis (DM) with anti-transcriptional intermediary factor 1 antibody (anti-TIF1γ-Ab). A comparison was made between clinical information of anti-TIF1γ DM patients with and without malignancy. Additionally, a review of the literature on anti-TIF1γ DM and malignancy was conducted by searching PubMed and EMBASE databases. In our cohort of 37 patients, 27.0% (10/37) developed malignancy. The timeframe during which these 10 patients developed malignancy ranged from 21 months prior to the diagnosis of DM to 36 months following the diagnosis of DM. Specifically, one patient was diagnosed with breast cancer at the age of 36. Comparing the groups with and without malignancy, we found that age over 65 years (40% vs 7.4%, P = 0.035), a shorter duration from the onset of symptoms to the diagnosis of DM (2.5 vs 10 months, P = 0.003), and higher erythrocyte sedimentation rate (ESR) levels (23 vs 10 mm/h, P = 0.048) were found to be associated with an increased risk of malignancy. Conversely, the presence of Gottron's papules (63% vs 20%, P = 0.029) may suggest a lower likelihood of malignancy. The literature review revealed that the prevalence of myositis-associated malignancy was 40.7% (340/836), with variations ranging from 19% to 82.9% across different series. In summary, factors such as age over 65 years, a shorter duration between symptom onset and diagnosis of DM, and elevated ESR levels may indicate an increased risk of malignancy in anti-TIF1γ DM patients.

Hereditary angioedema (HAE) symptoms can vary greatly. Disease burden evaluation is essential for providing adequate treatments for patients. Patient-reported outcome measures (PROMs), including the 12-Item Short Form Health Survey (SF-12), the Angioedema Quality of Life (AE-QoL), the Hospital Anxiety and Depression Scale (HADS), and the Work Productivity and Activity Impairment: Specific Health Problem (WPAI:SHP) questionnaires, were collected in 2021, before modern medications for long-term prophylaxis (LTP) of HAE were licensed in Japan. Patients also reported their HAE attack frequency as “annual” (several attacks annually), “monthly” (several attacks monthly) or “weekly” (several attacks weekly). Multiple linear regression analyses were conducted on the relationship between independent parameters (sex, age, attack frequency, HAE type, and HADS scores) and dependent parameters (AE-QoL and SF-12 scores). Fifty-four patients reported PROMs. All PROMs showed substantial health-related quality of life (HRQoL) impairment. Overall, the higher the attack frequencies, the greater the reported impairment in the PROMs tended to be. In multiple linear regression analyses, higher AE-QoL Fatigue/Mood and Fears/Shame domain scores (greater impairment) were associated with higher HADS anxiety subscale scores; higher AE-QoL total scores (greater HRQoL impairment) and lower SF-12 Physical and Mental Health Composite scores (greater general health impairment) were associated with higher HADS depression subscale scores. Patients with monthly or weekly HAE attacks reported numerically low absenteeism and numerically high presenteeism and work productivity loss as measured by the WPAI:SHP questionnaire. In this study, conducted before modern LTP options were available in Japan, patients with HAE reported notable impairment in HRQoL and work productivity. Weekly or monthly HAE attack frequencies were associated with a high disease burden. Furthermore, a substantial number of patients reported notable fatigue/mood impairment as measured by the AE-QoL and depression as measured by the HADS regardless of attack frequency. These results provide a basis for future studies evaluating the effect of LTP on the clinical manifestations and HRQoL in patients with HAE.

Psoriatic disease (PsD) is a chronic disease affecting skin (psoriasis) and joints (psoriatic arthritis, PsA) that has a significant impact on patients' quality of life (QOL). We report findings from the Japanese subgroup of patients included in Psoriasis and Beyond: The Global Psoriatic Disease Survey, a cross-sectional, quantitative online survey of patients with self-reported, healthcare professional (HCP)-diagnosed, moderate-to-severe plaque psoriasis, with or without PsA. Eligible patients who were recruited online completed a 25-min internet-based survey in Japanese. We assessed patients' understanding of the systemic nature of PsD, disease burden, perception towards their HCPs, treatment expectations, and satisfaction with care. Of the 148 patients, 74% were females. In total, 65% of patients were aware of the systemic nature of their disease. A minority of patients (27%) were aware that PsA was related to their psoriasis, and 30% and 42% of patients were unaware of any manifestations and comorbidities, respectively, related to PsD. Overall, 21% of patients reported that their disease has a “very large” to “extremely large” impact on their QOL (assessed by Dermatology Life Quality Index score), while the majority (61%) reported a “small” effect or “no effect” at all on QOL. Patients experienced stigma and discrimination and had a negative impact on relationships due to PsD. More patients with psoriasis and concomitant PsA (66%) were satisfied with their current treatment than those with psoriasis alone (46%). Overall, 41% of patients were not involved in deciding their treatment goals. These results suggest that Japanese patients may not be fully aware of the systemic nature of PsD, its manifestations and comorbidities. While these patients were somewhat satisfied with their current treatment, they were only occasionally consulted in deciding treatment goals. Policy measures are required to address the stigma and discrimination experienced by patients. Increased patient participation in their care supports shared decision-making and enhanced treatment outcomes.

We investigated the clinical efficacy of short-term, oral fosravuconazole (F-RVCZ) therapy for tinea pedis, commonly known as athlete's foot. F-RVCZ (equivalent to 100 mg ravuconazole) was administered orally once daily for 1 week for interdigital and vesicular tinea pedis and for 4 weeks for hyperkeratotic tinea pedis. Efficacy was evaluated based on mycological efficacy and clinical symptoms at Weeks 1, 4, and 8 for interdigital and vesicular tinea pedis and at Weeks 4, 8, and 12 for hyperkeratotic tinea pedis. Efficacy was confirmed at the end of treatment. Therapeutic efficacy increased over time from the end of treatment for both types of tinea pedis. All adverse drug reactions (ADRs) were within expectations and there were no cases of discontinuation due to ADRs or serious ADRs. Short-term oral F-RVCZ therapy is expected to be as effective or more effective than terbinafine and itraconazole, which have already been approved in Japan and may be a useful option for the treatment of tinea pedis.

Lantto R, Jokelainen J, Huilaja L, Sinikumpu S-P. Erythema nodosum in northern Finland between 1996 and 2019: A register-based study. J Dermatol. 2024; 51: 1017–1021. https://doi.org/10.1111/1346-8138.17264

The first and last names of the authors were swapped and they have been corrected in the online article.

We apologize for this error.

As the clinical course of systemic sclerosis (SSc) varies widely, prognostic indicators have been sought to predict the outcomes of individual patients. Racial differences in SSc render it necessary to validate prognostic indicators in different patient cohorts. In this study, we aimed to assess clinical and laboratory parameters in Japanese patients with early-stage SSc with diffuse cutaneous involvement and/or interstitial lung disease, and identify predictive factors for disease progression. We performed multivariate analyses of baseline clinical information to estimate symptoms 4 years later in Japanese patients with diffuse cutaneous SSc and/or SSc with interstitial lung disease. Patients were enrolled in the study within 5 years of disease onset at 10 Japanese SSc centers. Over 12 years, 115 patients followed up for 4 years were included in this study. The modified Rodnan skin score (mRSS) at 4 years correlated with the baseline mRSS and finger-to-palm distance, defined as the average length from the distal tip of the fourth finger to the distal palmar crease. The percentage predicted vital capacity (%VC) in year 4 positively and negatively correlated with initial %VC and the presence of anti-topoisomerase I antibodies, respectively. The Health Assessment Questionnaire Disability Index (HAQ-DI) at 4 years was positively and negatively associated with baseline HAQ-DI and %VC, respectively. The occurrence of digital ulcers within 4 years was associated with the initial presence of digital ulcers, finger-to-palm distance, and the presence of digital pitting scars and anti-topoisomerase I antibodies. This study identified several factors that may predict the progression of early-stage SSc in Japanese patients. Finger-to-palm distance may be a useful tool for predicting the progression of skin thickening and the development of digital ulcers in the early stages of severe SSc, but larger, long-term prospective studies are needed to confirm our findings.