The Journal of dermatology最新文献

Wiedemann-Rautenstrauch syndrome is an extremely rare autosomal recessive progeroid disorder closely linked to mutations in POLR3A. Here, we report a case of a 4-year-old female patient carrying a novel compound-heterozygous variant in POLR3A. In addition to the classic Wiedemann-Rautenstrauch syndrome features-progressive diffuse alopecia, growth retardation, and abnormal white matter development-the patient presented with severe anemia and skin laxity, phenotypes not previously described in Wiedemann-Rautenstrauch syndrome. RT-qPCR analysis of skin tissue demonstrated a significant downregulation of POLR3A mRNA expression (p < 0.01). To our knowledge, this is the first report implicating an intronic POLR3A variant in Wiedemann-Rautenstrauch syndrome in the Chinese population, expanding both the mutational and phenotypic spectra of the disorder and underscoring its clinical heterogeneity.

Acute radiation dermatitis (ARD) is a frequent toxicity in head and neck radiotherapy (RT), yet the interplay among skin dose, patient phenotype, treatment modality, and objective biophysical skin responses remains poorly defined. Previous studies have been limited by small sample sizes, older RT techniques, absence of dose-response modeling, or reliance on subjective grading. In this prospective cohort study, we evaluated temporal changes in skin erythema, melanin index, hydration, and sebum using standardized multiprobe devices at baseline (T1), end of RT (T2), and three months post-RT (T3) in 130 patients with head and neck cancer treated by modern photon RT (volumetric modulated arc therapy, VMAT, n = 90) or proton RT (intensity-modulated proton therapy, IMPT, n = 40). Multivariable analyses examined associations between RT technique, superficial skin dose, baseline phenotypic characteristics, and biophysical outcomes. VMAT and IMPT demonstrated similar temporal biophysical profiles across all time points. Superficial skin dose, rather than modality or ARD grade, independently predicted higher erythema and melanin indices and lower hydration and sebum at T3. Baseline levels, male sex, and higher Fitzpatrick skin type were strong determinants of biophysical skin response at T2 and T3. Hydration and sebum did not recover to baseline at T3, indicating persistent subclinical barrier and adnexal impairment despite clinical resolution of erythema. These findings suggest that biophysical skin response after head and neck RT is more strongly associated with dose and phenotype. Objective assessments reveal latent barrier dysfunction not captured by standard ARD grading, underscoring the value of integrating skin dose metrics and quantitative monitoring into individualized risk stratification and skin-sparing strategies in modern RT.

Vascular anomalies are classified according to the ISSVA classification into vascular tumors with endothelial proliferation and vascular malformations without proliferation. Infantile hemangioma is a vascular tumor that is diagnosed by GLUT-1 immunoreactivity. GLUT-1 positivity is reportedly sometimes observed in angiosarcoma, but the clinical significance remains unclear. Here, immunohistochemistry was performed on tissue samples from patients with angiosarcoma (n = 10), pyogenic granuloma (n = 9), and senile hemangioma (n = 10), with infantile hemangioma serving as a positive control. GLUT-1 expression was detected in the cytoplasm and/or cell membrane of tumor cells in all cases of angiosarcoma (100%), as well as in the cytoplasm of some cases of pyogenic granuloma (44.4%) and senile hemangioma (40%). Double immunofluorescent staining for GLUT-1 and CD34 revealed co-expression in tumor endothelial cells of angiosarcoma. Clinically, cases of angiosarcoma with strong membranous GLUT-1 expression tended to be associated with tumor progression, while those with weak or mild cytoplasmic expression showed a better response to treatment. These findings suggest that GLUT-1 may serve as a useful marker of tumor progression for angiosarcoma, and as a potential therapeutic target in vascular tumors.

Emerging therapies for vitiligo, such as Janus kinase (JAK) inhibitors, have raised concerns about an increased risk of herpes zoster (HZ), emphasizing the need to clarify the baseline HZ risk in patients with vitiligo. This study aimed to determine whether vitiligo itself is associated with a higher risk of HZ and to identify potential modifying factors, including systemic treatments. Using Taiwan's Longitudinal Health Insurance Database from 2010 to 2022, a retrospective nationwide cohort study was conducted. Patients with vitiligo were identified through diagnostic codes and matched in a 1:4 ratio with non-vitiligo controls by age, gender, index date, and comorbidities using propensity score matching. Subgroup analyses evaluated HZ risk among patients receiving systemic treatments, including phototherapy and immunosuppressants. A total of 79 910 individuals were included after matching. During the study period, the incidence of herpes zoster was significantly higher in patients with vitiligo than in controls (7.78% vs. 2.72%, p < 0.001). After adjusting for potential confounders, vitiligo remained independently associated with an increased risk of HZ (adjusted hazard ratio [aHR]: 1.532). The risk of HZ increased with age and was higher among female patients. Subgroup analysis further revealed that vitiligo patients receiving systemic therapy had the greatest susceptibility to HZ, especially those treated with cyclosporine (aHR: 1.891), methotrexate (aHR: 1.981), and systemic corticosteroids (aHR: 1.474). In conclusion, this large population-based study demonstrates that vitiligo is an independent risk factor for herpes zoster, and systemic immunosuppressive therapies further augment this risk. Clinicians should be aware of the potentially increased vulnerability to HZ among patients with vitiligo, particularly in older or female individuals. These findings may help inform general clinical considerations regarding preventive strategies, including herpes zoster vaccination, to reduce the risk of infection-related complications in this population.

Chronic itch represents a social burden due to its high prevalence, negative impact on quality of life, and limited treatment options. Spatial (simultaneously applied stimuli at multiple skin sites) and temporal (repeated stimuli over time) summation are key mechanisms in itch processing but have not been investigated in detail in humans. This study assessed experimentally induced histaminergic and non-histaminergic itch provocations in healthy volunteers. In the spatial summation experiment, histamine or cowhage was applied in randomized order to one area, two areas on the same arm, or two areas on different arms. Itch and pain intensities were recorded for 9 min, followed by assessment of alloknesis and hyperknesis. In the temporal summation experiment, each pruritogen was applied either once or repeatedly at intervals of 90 or 180 s apart to the forearm. Itch and pain intensities were recorded for 15 min, after which superficial blood perfusion (SBP), alloknesis, and hyperknesis were assessed. Itch intensity and calculated area under the curve (AUC) were significantly facilitated by special summation after both ipsilateral and contralateral applications of both pruritogens. Temporal summation significantly increased AUC after reapplication of either of the pruritogens after 180 s. Reapplication after 90 s significantly increased cowhage-induced SBP, while reapplication after 180 s increased histamine-induced SBP. In conclusion, spatial summation augmented itch intensity and AUC, whereas temporal summation increased AUC and enhanced SBP. Both effects were observed for histaminergic and non-histaminergic itch, highlighting differences in fundamental mechanisms.