Purpura annularis telangiectodes of Majocchi: A case report.

BACKGROUND: Purpura annularis telangiectodes of Majocchi (PATM), also known as Majocchi, is a rare subclass of pigmented purpuric dermatoses. The etiology of PATM is unknown, but it seems more common in children and young women. The skin lesions are mostly symmetrical ring-shaped reddish-brown macules on the lower limbs. CASE SUMMARY: A 9-year-old girl, who has received treated in our department, presented with reddish-brown ring-shaped rash on both lower limbs that had been present for 6 mo. These lesions, red brownish annular or petaloid patches, were mostly found on ankles and lower limber, which do not fade when adding pressure and no feel of infiltration and no atrophy when touching those lesions. Pathological examination showed deposition of hemosiderin in papillary dermis. However, dermoscopy showed the pigmentation in the center as well as the lavender patches on the edge of lesion. The child was thus diagnosed with PATM. After diagnosis, we suggested the patient avoid strenuous exercise. she was given vitamin C tablets for oral and mometasone furoate cream for external use. Follow-up examinations and treatment continue to support the clinical diagnosis to date. CONCLUSION: This is the first report of investigating PATM using dermoscopy, which can differentiate PATM from other diseases due to its unique microscopic feature under dermoscopy. Although PATM is harmless, it still requires long-term follow-up. Moreover, dermoscopy technique can be applied for observation of multi-site lesions and correlated with histopathology. Thus, we believe this approach could be generalized for future diagnosis of PATM.

Exploration of Biomarkers of Psoriasis through Combined Multiomics Analysis.

Background: Aberrant DNA methylation patterns are of increasing interest in the study of psoriasis mechanisms. This study aims to screen potential diagnostic indicators affected by DNA methylation for psoriasis based on bioinformatics using multiple machine learning algorithms and to preliminarily explore its molecular mechanisms. Methods: GSE13355, GSE14905, and GSE73894 were collected from the gene expression omnibus (GEO) database. Differentially expressed genes (DEGs) and differentially methylated region- (DMR-) genes between psoriasis and control samples were combined to obtain differentially expressed methylated genes. Subsequently, a protein-protein interaction (PPI) network was established to analyze the interaction between differentially expressed methylated genes. Moreover, the hub genes of psoriasis were screened by the least absolute shrinkage and selection operator (LASSO), Random Forest (RF), and Support Vector Machine (SVM), which were further performed single-gene gene set enrichment analysis (GSEA) to clarify the pathogenesis of psoriasis. The druggable genes were predicted using DGIdb. Finally, the expressions of hub genes in psoriasis lesions and healthy controls were detected by immunohistochemistry (IHC) and quantitative real-time PCR (RT-qPCR). Results: In this study, a total of 767 DEGs and 896 DMR-genes were obtained. Functional enrichment showed that they were significantly associated with skin development, skin barrier function, immune/inflammatory response, and cell cycle. The combined transcriptomic and DNA methylation data resulted in 33 differentially expressed methylated genes, of which GJB2 was the final identified hub gene for psoriasis, with robust diagnostic power. IHC and RT-qPCR showed that GJB2 was significantly higher in psoriasis samples than those in healthy controls. Additionally, GJB2 may be involved in the development and progression of psoriasis by disrupting the body's immune system, mediating the cell cycle, and destroying the skin barrier, in addition to possibly inducing diseases related to the skeletal aspects of psoriasis. Moreover, OCTANOL and CARBENOXOLONE were identified as promising compounds through the DGIdb database. Conclusion: The abnormal expression of GJB2 might play a critical role in psoriasis development and progression. The genes identified in our study might serve as a diagnostic indicator and therapeutic target in psoriasis.

Dermoscopic characteristics of membranous aplasia cutis congenita: Report of 56 cases.

BACKGROUND: Membranous aplasia cutis congenita (MACC) presents at birth characterized by oval epidermis defect. Skin lesions with MACC have various clinic manifestations. In recent years, the usefulness of trichoscopy (scalp dermoscopy) has been reported for hair loss diseases. However, the dermoscopic features of MACC were mostly reported by case reports. OBJECTIVES: To summarized the obvious dermoscopic characteristics of MACC. MATERIALS & METHODS: These 56 cases met the clinical diagnostic criteria for MACC without forceps delivery complications or other birth injuries. To find the dermoscopic characteristics of MACC by summarizing 56 infants' dermoscopic pictures. RESULTS: The dermoscopic manifestation of MACC are characterized by hair follicle openings and hair deficiency in the center of skin lesions, translucent epidermis, hair root and hair bulb arranged along the margins of skin lesion. CONCLUSION: The typical dermoscopic characteristics of MACC could help clinicians to early diagnose and differential diagnosis.

Neonatal syringocystadenoma papilliferum: A case report.

BACKGROUND: Syringocystadenoma papilliferum (SCAP) represents a rare, noncancerous adnexal tumor predominantly presenting at birth or in early childhood. CASE SUMMARY: In this study, a 35-day-old girl was admitted to Kunming Children's Hospital in October 2019 due to a lesion in the right frontotemporal region since birth. The surface of the lesion was bright red, granular, and papillary and easily bled upon touch, with about 1.5 cm × 4 cm in size. A subcutaneous mass was felt at the base of the lesion, with a size of about 3 cm × 5 cm. Dermatoscopy showed that the skin lesion was lobular and crumby. The lesion center was reddish or white, while the edges were white or yellowish band-like. There were polymorphic vascular structures and white radial streaks in the lesion, with some vascular clusters scattered. Pathological examination showed papilloma-like hyperplasia of the epidermis, with the epidermis partly sinking into the dermis to form several cystic depressions. Combining clinical and histopathological features, the child was diagnosed with SCAP. Follow-up is ongoing, and surgical resection will be performed. CONCLUSION: This was a special clinical manifestation of SCAP, which complements the clinical manifestations of the disease and provides new insights for the diagnosis and differentiation of neonatal skin tumors.

miR-125b is downregulated in systemic lupus erythematosus patients and inhibits autophagy by targeting UVRAG.

Systemic lupus erythematosus (SLE) is a severe autoimmune disease and the pathogenesis remains incompletely understood. This study aimed to investigate the role of miR-125b in the pathogenesis of SLE and explore the underlying mechanism. Compared to healthy controls, the expression of miR-125b decreased in peripheral blood mononuclear cells (PBMCs) of SLE patients. In addition, PBMCs exposed to ultraviolet B had lower miR-125b level compared to those unexposed to radiation. We identified UV radiation resistance associated gene (UVRAG) as a target of miR-125b. Jurkat cells treated with miR-125b-5p agomir showed reduced levels of ATG7, Beclin-1 and LC3 II and decreased autophagy. In contrast, Jurkat cells treated with miR-125b-5p antagomir showed increased levels of ATG7, Beclin-1 and LC3 II and increased autophagy. Furthermore, Jurkat cells transfected with UVRAG expression vector showed higher expression of ATG7, Beclin-1 and LC3 II and increased autophagy. Conversely, cells transfected with UVRAG siRNA had lower expression of ATG7, Beclin-1 and LC3 II and decreased autophagy. Taken together, our data demonstrate that Ultraviolet B radiation can downregulate miR-125b-5p and increase UVRAG expression and autophagy activity in PBMCs of SLE patients. These findings help explain how ultraviolet B exacerbates SLE and suggest that UVRAG is a potential therapeutic target for SLE.