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Background: Acne vulgaris is a chronic inflammatory disease of the pilosebaceous unit. This study aimed to explore the pathogenesis of acne and the therapeutic mechanism of isotretinoin from the metabolic perspective in coal tar-induced acne in rabbits.Methods: Ultra-high performance liquid chromatography/quadrupole time-of-flight mass spectrometry (UHPLC-qTOF-MS) based metabolomics was used to identify skin metabolites in groups C (blank control), M (model group) and T (isotretinoin group). Multivariate statistical analysis was used to process the metabolomics data.Results: 98 differential metabolites in group C and group M were identified. The highest proportion of differential metabolites were organic acids and derivatives, lipid metabolites, organic heterocyclic compounds, and nucleoside metabolites. The most significant metabolic pathways included protein digestion and absorption, central carbon metabolism in cancer, ABC transporters, aminoacyl-tRNA biosynthesis, biosynthesis of amino acids, and sphingolipid signaling pathway. Isotretinoin treatment normalized eight of these metabolites.Conclusions: Our study will help to further elucidate the pathogenesis of acne, the mechanism of isotretinoin at the metabolite level, and identify new therapeutic targets for treating acne.

Background As an essential spice, chili pepper has essential physiological functions for humans. Capsaicin is the main compound found in chili pepper and has complex pharmacologic effects. Capsaicin has been observed to play an important role in obesity, cardiovascular and gastrointestinal diseases, various cancers and dermatologic conditions. Although possessing a broad spectrum of bioactivities, changes in the metabolic profile of the organism are inadequately unknown after oral gavage with capsaicin. Methods Therefore, an untargeted metabolomics approach coupled with multivariate statistical analyses was first applied to study the plasma and skin metabolic differences between mouse groups with and without capsaicin treatment by gavage. And we discussed these differential metabolites in the context of the physiological functions of capsaicin. Results The results showed that 38 plasma metabolites and 7 skin metabolites were associated with capsaicin intake, mainly associated with energy metabolism, lipid metabolism, and oxidative stress. KEGG pathway enrichment analysis revealed that these differential metabolites are primarily involved in some crucial pathways, such as Central carbon metabolism in cancer, Pyruvate metabolism, and ABC transporters in plasma; sphingolipid metabolism in the skin. Conclusions Plasma and skin metabolome showed significant alterations in response to the capsaicin supplementation, and these findings contribute to a better understanding of the potential effects of a capsaicin-rich diet on organisms.

Hailey-Hailey disease (HHD) is a rare autosomal dominant genodermatosis. It is characterized clinically by recurrent erosions, blisters and erythematous plaques at the sites of friction and intertriginous areas. The pathogenic gene of HHD was reported to be the ATPase calcium-transporting type 2C member 1 gene (<i>ATP2C1</i>). In this study, genomic DNA polymerase chain reaction (PCR) and direct sequencing of <i>ATP2C1</i> were performed from 3 Chinese pedigrees and 4 sporadic cases of HHD. We detected 3 heterozygous mutations, including 2 novel mutations (c.1673_1674insGTTG and c.2225A&#x3e;G) and 1 recurrent nonsense mutation (c.1402C&#x3e;T; NM_014382.4). The <i>ATP2C1</i> gene was also screened in the asymptomatic members of pedigrees. Our results would further expand the mutation spectrum of the <i>ATP2C1</i> gene and be helpful in the genetic counseling of patients with HHD.

Purpose Hailey–Hailey disease (HHD), also known as familial benign chronic pemphigus, is a rare autosomal dominant inherited blistering dermatosis. Pathogenic variants in ATP2C1 have been associated with HHD since 2000. This study aimed to identify the mutations in the ATP2C1 gene in two Chinese pedigrees and two sporadic cases with HHD. Patients and Methods Two Chinese pedigrees and two sporadic cases were included in this study. Whole-exome sequencing and Sanger sequencing were performed to detect the mutation of the ATP2C1 gene. Predictions of protein structure and function were performed using bioinformatics tools, including Mutation Taster, Polyphen-2, SIFT, and Swiss-Model. Results In this study, we detected three heterozygous mutations, including novel compound mutations of (c.1840–4delA and c.1840_1844delGTTGC), splice site mutation of c.1570+3A>C, and a previously known nonsense mutation c.1402C>T in the ATP2C1 gene. Combined with our previous study, ten patients with c.1402C>T mutation in the ATP2C1 gene have been identified, and all these patients originated from Jiangxi Province. Conclusion c.1402C>T mutation in the ATP2C1 gene was considered a regional highly prevalent mutation in the Chinese population with HHD. The results added new variants to the database of ATP2C1 mutations associated with HHD.