Inherited epidermolysis bullosa (IEB) represents a group of rare genetic dermatoses comprising various phenotypes ranging from severe cutaneous and extracutaneous involvement to mild cutaneous fragility. Pathogenic variants have been identified in at least 20 genes responsible for IEB.In the present study, six cases of epidermolysis bullosa were recruited and subjected to a combination of clinical and genetic analysis. The family history of each case was surveyed. Whole exome sequencing was performed to identify the causative variation. The six patients showed typical EB symptoms. In all cases, WES detected the diagnostic variations of the COL7A1 or DST gene. A total of 10 variants were identified and verified. The findings of the present study further expanded the mutation spectrum of IEB, provided evidence for genetic counseling to the affected families, as well as highlighted the complexity of the pathogenesis of IEB.
Objective To explore the relationship between the serum concentration of IL-17 and the pathogenesis of psoriasis. Methods ampere database was established through literature search, and meta-analysis was used to evaluate the effect indicator of the included literatures. Results 5 articles were included in the study, and the quality evaluation score was 6–7 points by the Newcastle-Ottawa Scale (NOS) criteria. There was heterogeneity in the standardized mean difference (SMD) between the two groups (I2 = 98.63%). The random effect model analysis showed that the combined SMD = 2.11, 95%CI (0.79, 3.43), the effect size between studies was statistically significant (z = 3.13, p = 0.00). Conclusion There was a statistical difference in serum IL-17 concentration between the case group and the control group. The serum concentration of IL-17 in the case group was higher than that in the control group.
Since May 2022, monkeypox has been gradually spreading across countries. In past reports and treatment consensus, monkeypox is most widely known for its characteristic skin lesions, which are hard, spherical rashes that appear as herpes and pustules and are widely distributed centrifugally over all parts of the body. Prior to the appearance of the rash, carriers of monkeypox are likely to spread the virus to more susceptible people. Attention to the early atypical mucosal manifestations of monkeypox allows for early identification of potential cases of monkeypox, thereby controlling the further spread of the epidemic.
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