Shuaihantian Luo

Plasmacytoid dendritic cells (pDCs) are a main type I IFN producer that play critical roles in the pathogenesis of autoimmune diseases. However, both regulation of the function of pDCs and their relationships with autoimmunity are largely undetermined. Here, we investigated the causality of the nucleotide-binding oligomerization domain-like receptor family caspase recruitment domain containing 5 (NLRC5) led to excessive activation of pDCs. A mechanism study demonstrated that interferon regulatory factor 1 (IRF1) can regulate the expression of NLRC5 in pDCs through epigenetic mechanisms, enhancing pDCs autoimmune activity and contributing to the occurrence and progression of SLE. Consistently, the knockout mice manifested alleviated lupus progression in pDC-dependent lupus model. More important, pharmaceutical intervention revealed that tofacitinib could antagonize the detrimental function of NLRC5 in the lupus model and SLE samples. Therefore, our study provides insights into the epigenetic control of pDCs function and a paradigm for applying interferon-induced pathway to improve targeted therapy for autoimmune diseases.

Here, we report a case that is highly prone to misdiagnosis. Through detailed examination, it was ultimately confirmed to be secondary syphilis. We hope this article will deepen our understanding of syphilis as a master of disguise.

Summary: Polymorphism of OAS1 rs1051042 is associated with the genetic susceptibility and clinical phenotypes of Systemic Lupus Erythematosus (SLE) in the Chinese population. The genotype CG/GG and allele G of SNP rs1051042 in OAS1 are associated with increased genetic susceptibility of SLE. OAS1 rs1051042 polymorphism is associated with specific clinical phenotypes of SLE including malar rash, lupus nephritis, and anti‐dsDNA antibodies. The expression levels of OAS1 are more significantly increased in genotype GG than in genotype CC and CG of SNP rs1051042.

Background: Basal cell carcinoma (BCC) is the most common skin cancer. Recently, aminolaevulinic acid photodynamic therapy (ALA-PDT) has emerged as a noninvasive treatment for facial lesions. Objectives: To evaluate the efficacy and safety of second-intention healing after tumour excision with ALA-PDT in periocular BCC. Methods: In total, 16 patients with periocular BCC from an academic, large, metropolitan-based hospital were included in this study. All the patients received marginal resection combined with topical ALA-PDT. No suture was performed, and ALA-PDT treatments (three to six times) were applied to each patient with 633-nm red light directly after surgical resection. Patient demographics, images, medication and prognosis were evaluated and recorded. Patient Satisfaction Questionnaire (PSQ) scores were recorded, consisting of overall satisfaction with the medical experience (scored 0–10) and cosmetic outcome (scored 0–10). Results: Ten women and six men aged 33–84 years with periocular BCC were included. Subtypes of periocular BCC were nodular (8 of 16), infiltrative (2 of 16), nodular cystic (2 of 16), ulcerative (1 of 16) and unknown (3 of 16). All patients completed the treatment and had good overall satisfaction with the medical experience (mean score 9.5) and good cosmetic outcome (mean score 8.6). No serious complications or scar formation were reported in any patient. No recurrence of tumour was observed in the long-term follow-up of 1–3.5 years. Conclusions: Our results indicate that second-intention healing after marginal resection combined with ALA-PDT can reduce the tissue defect and maintain excellent cure rates. This method offers an alternative and aesthetic treatment for localized periocular BCC.

Introduction: Desmoplakin is constitutive component of desmosome which plays a critical part in keratinocyte adhesion. Skin fragility-woolly hair syndrome (SFWHS) is a very rare autosomal recessive disorder caused by variants in desmoplakin (DSP). Case Presentation: Herein, we described a 2-year-old Chinese boy who presented with palmoplantar keratoderma, short curly hair, and thickening of nails since birth. Histopathological examination showed hyperkeratosis, acanthosis, hypergranulosis, and prominent intercellular fissures. Two heterozygous variants in exon 24 of DSP, c.7642C>T (p.R2548X) and c.6449delC (p.R2151Gfs*3), were identified by whole-exome sequencing and further proven to be a novel compound heterozygous variant by Sanger sequencing. Both variants have not been identified and reported previously. Conclusion: To the best of our knowledge, this is the second case of SFWHS with compound heterozygous variants in a Chinese population. This case adds new variant spectrum in DSP of SFWHS and highlights the need for genetic testing understanding in patients with characteristic cutaneous findings.