Clinical, Cosmetic and Investigational Dermatology最新文献

Darier's disease (DD) is a rare chronic keratinizing skin disease characterized by dyskeratosis of epidermal cells. We report a case of DD with a medical history spanning over 20 years and recurring symptoms. Pathologically confirmed DD was treated with a combination of abrocitinib and acitretin, resulting in rapid symptom resolution within 2 weeks. No recurrence was noted in an 11-week follow-up. The mechanism may involve acitretin's inhibition of proliferation and anti-inflammation, while abrocitinib acts on IL-6 implicated in DD pathogenesis, exerting an immunomodulatory and anti-inflammatory effect, leading to rapid symptom relief. The combination of abrocitinib and acitretin is an effective therapy for DD, offering a promising new option for refractory patients.

Poly-D,L-lactic acid (PDLLA) microspheres, marketed globally as Aesthefill^® (Regen Biotech, Seoul, South Korea), are recognized for their biocompatible and biostimulatory properties, positioning them as a preferred option in aesthetic medicine. This article presents consensus recommendations from Brazilian experts on the reconstitution and clinical application of PDLLA for facial and non-facial treatments. Developed using a modified Delphi method with contributions from leading dermatologists and plastic surgeons, the consensus outlines protocols for reconstitution, injection techniques, and patient management. Key recommendations include reconstitution with 7-8 mL of sterile water for injection, the addition of lidocaine to improve patient comfort, and a preference for targeting the superficial subcutaneous layer. Dosing guidelines are specifically tailored to each treatment area and the desired degree of correction, underscoring the importance of personalized treatment plans. Maintenance treatments are advised at biennial intervals or at shorter intervals for patients exhibiting accelerated collagen degradation. The consensus also highlights the need for proper training and patient screening to minimize adverse effects, such as nodules and granulomas. This comprehensive guide aims to standardize the use of PDLLA, prioritizing patient safety and optimizing outcomes. While clinical trials evaluating PDLLA's aesthetic indications remain limited, these evidence-based guidelines bridge the gap by offering practical protocols grounded in clinical expertise. Further research is encouraged to validate these recommendations and explore new applications for PDLLA in aesthetic medicine.

Papular acantholytic dyskeratosis (PAD), often found to occur in the vulvar or anogenital area, is an exceedingly rare skin condition that usually presents in adulthood and features multiple smooth skin-colored or grayish-white papules with or without pruritus. Although the pathogenesis of PAD is unknown, PAD may be associated with mutations in ATP2C1 and ATP2A2 genes. Here, we report on an 18-year-old female patient with multiple gray-white flat papules in the anogenital area. Skin biopsy revealed hyperkeratosis of the epidermis, acantholysis, formation of fissures or lacunae, and disappearance of desmosomes. Whole exon sequencing (WES) of the patient indicated mutations in the ATP2C1 gene.

Background: Tuberous sclerosis complex (TSC) is a rare autosomal-dominant disorder involving multiple organs including skin, brain, heart, lung, kidney and liver. It usually occurs as early as birth or even in utero, with rare cases diagnosed in their adulthood. Here, we present a rare adult case of TSC presenting as periungual fibromas (PF).

Case presentation: A 67-year-old gentleman showed recurrence of multiple periungual polypoid tumors on all the toes of the right foot when presenting to our department. On physical examination, there were polypoid and verrucous protrusions on the nail fold side of the proximal toe. Computed tomography scan indicated multiple subependymal nodules and renal cyst. Pathological analysis for the polypoid tissues showed fibroepithelial-like lesions, epidermal hyperkeratosis, and acanthosis. Therefore, the patient was diagnosed with TSC presenting as PF.

Conclusion: We reported a rare case of TSC diagnosed in the adulthood based on the presence of PF, subependymal nodules, and renal cyst.

Background: Dyschromatosis symmetrica hereditaria (DSH) is a rare genetic skin condition characterized by pigmented macules on the hands, feet, and sometimes the face. The ADAR1 gene is responsible for this autosomal dominant disorder.

Objective: This study aimed to analyze a three-generation Chinese family with DSH, identify a novel ADAR1 gene mutation, and conduct a comprehensive literature review of Chinese DSH families to enhance understanding of the genetic basis and clinical manifestations.

Methods: Clinical reports, mutation analysis, and literature reviews were conducted. A literature search was performed using PubMed.

Results: A novel heterozygous nonsense mutation, c.763C>T (p.Q255X), in the ADAR1 gene was identified in the proband and five other affected individuals. Literature review findings revealed prevalent mutation sites and clinical data in Chinese DSH families over the past two decades.

Limitations: The number of databases searched was limited, and the treatment outcomes for patients were not deemed satisfactory.

Conclusion: This study provides valuable insights into the genetic basis and clinical features of DSH in Chinese families, shedding light on prevalent mutation sites and clinical data. Further research is needed to explore the relationship between gene mutations and clinical phenotypes and advance therapeutic interventions for DSH.

Purpose: Heat shock protein A4 (HSPA4) is associated with a variety of human diseases. However, its function in cutaneous malignant melanoma (CMM) remains uncertain.

Patients and methods: The gene and protein expression level of HSPA4 in CMM was investigated with public databases. Cell Counting Kit-8 (CCK8) assay was performed to assess the effect of HSPA4 on the proliferation of melanoma cells. Then, the diagnostic and prognostic value of HSPA4 in CMM were analyzed. Gene variations and methylation levels, and the correlation between HSPA4 expression and immune cell infiltration were evaluated, followed by the construction of HSPA4 related protein-protein interaction networks and functional enrichment analysis.

Results: The mRNA and protein expression level of HSPA4 was significantly higher in CMM. Knocking down HSPA4 in A-375 cell line could inhibit tumor cell growth. The receiver operating characteristic (ROC) curve analysis confirmed the diagnostic value of HSPA4. Survival analysis showed that high expression of HSPA4 was associated with poor prognosis. HSPA4 gene alterations were observed in 3% of CMM patients. Five CpG sites are associated with the prognosis of CMM. HSPA4 is negatively correlated with most immune cells in CMM. The protein interaction network shows that HSPA4 is closely related to proteins such as DnaJ heat shock protein family (Hsp40) member B1 (DNAJB1) and DnaJ heat shock protein family (Hsp40) member B6 (DNAJB6), and the expression of DNAJB1 is positively correlated with HSPA4. Functional enrichment analysis indicated that HSPA4 may be associated with immune suppression and immune escape within the tumor microenvironment of CMM.

Conclusion: HSPA4 may participate in the regulation of tumor development and microenvironment, which may be a potential diagnostic and prognostic marker of CMM.

Pemphigus foliaceus (PF) and bullous pemphigoid (BP) are distinct autoimmune bullous skin diseases mediated by autoantibodies targeting adhesion molecules in desmosomes and hemidesmosomes structural proteins in the epidermal-basement membrane zone, respectively. The coexistence of PF and BP is rare. We present the case of a 72-year-old male with clinical and histological features of both PF and BP. Treatment with immunoglobulin (10 g/day for 3 days), intravenous dexamethasone sodium phosphate (5 mg/day for 10 days), oral triamcinolone (30 mg/day for 10 days), and minocycline hydrochloride (20 mg/day for 10 days) resulted in significant improvement. This rare case highlights the importance of accurate diagnosis and effective treatment strategies for the coexistence of PF and BP.

Objective: Topical corticosteroids (TCS), topical calcineurin inhibitors (TCI), and phosphodiesterase 4 (PDE-4) inhibitors are three common topical anti-inflammatory agents for treating atopic dermatitis (AD). The purpose of our study was to understand Chinese dermatologists' perceptions and the factors influencing their choices of the three agents.

Methods: An online questionnaire survey was conducted between 25 July 2022 and 25 August 2022 among Chinese dermatologists. The survey with six multiple-choice questions focused on what were their most commonly prescribed agents for treating AD, and what factors influenced their choices of the three agents. The results were assessed by chi-square test and logistic regression analysis.

Results: A total of 1, 156 valid questionnaire replies were received. For treating AD, 79.84% of Chinese dermatologists chose TCS, 81.40% chose TCI, and 18.25% chose PDE-4 inhibitors. When TCS was not chosen, the three principal reasons included local adverse effects (85.56%), suspicious infection on lesioned area (71.54%), and patient steroid phobia (61.59%). Coincidentally, when the TCI and PDE-4 inhibitors were chosen, the main reason was patient steroid phobia (76.21% and 74.74% respectively) against TCS. When PDE-4 inhibitors were not chosen, the major reasons were their intolerable adverse effects (80.36%) and their slower onset and weak efficacy (57.61%). Logistic regression analysis revealed that more senior dermatologists were less likely to choose TCS for the reason of local adverse effects and patient steroid phobia (each P < 0.05), they were more likely to choose TCI for the same reason of patient steroid phobia against TCS (P < 0.05).

Conclusion: Local adverse effects and patient steroid phobia were the reasons that limited Chinese dermatologists from choosing TCS for treating AD. Instead, more of them choose to use TCI. PDE-4 inhibitors were sometimes considered as an alternative to TCS or TCI, but its local adverse effects and limited efficacy affected the choice of this agent.

This comprehensive review explores the pivotal roles of glycation and oxidative stress in the aging process of the skin, emphasizing their targeted therapeutic applications in aesthetic and regenerative medicine, as well as anti-aging interventions. Glycation, a biochemical process involving the non-enzymatic attachment of sugars to proteins, lipids, or nucleic acids, culminates in the formation of Advanced Glycation End products (AGEs). These AGEs are significant contributors to aging and various chronic ailments, triggering oxidative stress and inflammatory pathways, thereby manifesting as wrinkles, diminished skin elasticity, and other age-related dermal alterations. A central focus of this review is the synergistic interplay between Hyaluronic Acid (HA) and Trehalose in combating these aging mechanisms. HA, renowned for its anti-inflammatory and antioxidative properties, assumes a pivotal role in modulating Reactive Oxygen Species (ROS) levels and safeguarding against oxidative damage. Concurrently, trehalose targets glycation and oxidative stress, exhibiting promising outcomes in augmenting skin health, providing Ultraviolet B (UVB) photoprotection, and manifesting notable anti-photoaging effects. The combined administration of HA and trehalose not only addresses existing skin damage but also confers preventive and reparative benefits, particularly in stabilizing HA and mitigating glycation-induced stress. Their synergistic action significantly enhances skin quality and mitigates inflammation. The implications of these findings are profound for the future of anti-aging therapeutics in aesthetic medicine, suggesting that the integration of HA and trehalose holds promise for revolutionary advancements in preserving skin vitality and health. Moreover this paper underscores the imperative for continued research into the combined efficacy of these compounds, advocating for innovative therapeutic modalities in aesthetic medicine and enhanced strategies for combating aging, glycation, and oxidative stress.