Objective To investigate the genetic mutations in a patient and patient's family members from an X-linked dyskeratosis congenita (X-linked DC) pedigree, in order to provide a biological basis for understanding the pathogenesis and prenatal diagnostic counseling of this disease. Methods Clinical data were collected from 11 family members of a patient with X-linked DC. Whole-exome sequencing and Sanger sequencing were performed on peripheral blood DNA from the patient and 4 family members to identify pathogenic variants. Results A c.109_111del (p.Leu37del) mutation was identified in the DKC1 gene of the patient. This mutation is an in-frame deletion, resulting in the loss of leucine at amino acid position 37. The patient's mother and maternal grandmother were carriers of the mutation, while no mutation was detected in either the patient's younger brother or father. Conclusion The hemizygous c.109_111del in-frame deletion in DKC1 is the causative mutation in this X-DC patient.
Objective To understand the reflectance confocal microscopy (RCM) characteristics of pediatric pityriasis lichenoides chronica and its value in clinical practice. Methods This study retrospectively analyzed the RCM features of 41 pediatric patients with pityriasis lichenoides chronica at the Pediatric Dermatology Department of Tianjin Academy of TCM Affiliated Hospital and compared them with histopathological findings. Results Under RCM, the skin lesions showed mild hyperkeratosis (60.97%), parakeratosis (90.24%), and irregular highly refractive substance within the epidermis (14.63%, particularly in hypopigmented areas). Mild focal spongiotic edema in the stratum spinosum was observed (97.56%), with some cases showing intra-epidermal vesicle formation (21.95%). The dermo-epidermal junction was indistinct (73.17%), and focal liquefactive degeneration of the basal layer was present (90.24%). In the superficial dermis, various degrees of perivascular infiltration of melanophages (90.24%) and inflammatory cells (100%) were observed. Extravasated erythrocytes around superficial blood vessels were also seen in purpuric lesions (24.39%). The frequency of focal liquefaction degeneration of the basal cell layer varied significantly with different skin lesions (P<0.05), with hypopigmentation>erythematous papules with scaling > purpuric lesions. The common findings, including the positive rates of hyperkeratosis, parakeratosis, and erythrocyte extravasation, were comparable between RCM and histopathological results(P>0.05). However, the focal acantholysis, liquefaction degeneration of basal cells and intraepidermal blisters in RCM were more common than those in histopathological examination (P<0.05). Focal liquefaction degeneration of the basal cell layer was an important distinguishing feature under RCM compared to other diseases. Conclusions Under RCM, childhood pityriasis lichenoides chronica exhibits specific features, some of which have higher detection rates than those of histopathology. RCM can provide a basis for the clinical differential diagnosis of this condition.
Objective To investigate the efficacy and safety of photodynamic therapy combined with minocycline for severe acne. Methods One hundred patients with severe acne were enrolled from the dermatology outpatient department of The First Affiliated Hospital of Dali University between January 2020 and June 2021. Participants were randomly assigned to either a study group (n=50) or a control group (n=50). The control group received treatment with minocycline and adapalene gel. The study group received 5-aminolevulinic acid photodynamic therapy (5-ALA-PDT) in addition to the standard regimen given to the control group. The two groups were compared in terms of clinical efficacy, course of treatment, safety, and recurrence rates. Results A total of 48 patients in the treatment group and 49 patients in the control group completed the study. At weeks 2, 4, and 6, the total effective rates in the study group were significantly higher than those in the control group (58.33% vs. 30.61%, 95.83% vs. 77.55%, and 97.92% vs. 83.67%, respectively. P<0.05 for all). GAGS scores of the study group were significantly lower than those of the control group after 4 and 6 weeks of treatment(P<0.05 for both). The treatment duration was significantly shorter in the study group compared to the control group [24 (20.75, 32.25) days vs. 42 (25.50, 45.00) days, U=1 827.50, P<0.001]. There was no significant difference in the incidence of adverse reactions between the two groups (χ2=1.62,P=0.203). Although recurrence rates at 1, 3, and 6 months were lower in the study group compared to the control group, the differences were not significant (P>0.05 for all). Conclusions The combination regimen of photodynamic therapy, minocycline, and adapalene gel demonstrates superior efficacy, reduced treatment time, and good safety for severe acne. It can serve as a preferred treatment strategy.
Objective To analyze the efficacy and safety of tofacitinib in the treatment of moderate to severe alopecia areata. Methods A retrospective analysis was performed on 21 patients with alopecia areata,including 11 moderate cases and 10 severe cases, who were treated at the Department of Dermatology, Wuyi Hospital of Traditional Chinese Medicine, Jiangmen City, between October 2021 and March 2025. Patients were treated with oral tofacitinib (5 mg twice daily), topical 5% minoxidil tincture, and halometasone cream for six months. Subsequently, other treatments were administered until tofacitinib was discontinued or its dose was reduced to ≤ 5 mg daily. Efficacy was assessed using the severity of alopecia tool (SALT) and compared between moderate and severe groups. Adverse reactions were observed at the same time. Results After 6 months, 14 cases received combined treatment, including glucocorticoids,Chinese medicine, a laser at low energy level, microneedle therapy and platelet-rich plasma therapy. Combined glucocorticoid therapy was administered in six cases. The time to dose reduction and discontinuation was 2~6 months. ALT scores were significantly reduced from baseline to 3 months, 6 months, and the end of treatment (values: 51.19±20.96 at baseline, 31.33 ± 17.08 at 3 months, 5.95±5.75 at 6 months, 4.09±2.71 at end of treatment. t=10.92, 10.65, and 9.77, respectively. P<0.01 for all). The SALT scores were reduced from baseline by 42.68±12.22 % at 3 months, 86.76±7.52 % at 6 months, and 92.24±4.34 % at the end of treatment. The severe group exhibited a significantly lower rate of reduction in SALT scores at 3 months compared to the moderate group (Z=-2.01, P<0.05). No significant intergroup differences were observed at the 6-month or end of the observation period. Treatment duration differed significantly between the groups, with a longer median duration in the severe group [9 months (IQR 8.5~14)] than in the moderate group [4 months (IQR 4~7)] (Z=-3.34, P<0.01). No serious adverse reactions were reported during treatment. Conclusions Tofacitinib is effective for moderate and severe alopecia areata and is well-tolerated. However, treatment response is slower in patients with severe alopecia areata, requiring a longer course of therapy.
Objective To evaluate and compare the efficacy and safety of focused ultrasound versus photodynamic therapy for treating vulvar lichen sclerosus. Methods A total of 112 patients with vulvar lichen sclerosus treated at our hospital from June 2021 to June 2023 were enrolled in this study. Participants were randomly divided into two groups: the focused ultrasound group (n=56) and the photodynamic therapy group (n=56) by the random number table method. Changes in symptoms and signs were compared between the two groups at baseline, post-treatment, and 3-month follow-up. Clinical efficacy and adverse reactions during the treatment period were also compared. Serum levels of high-sensitivity C-reactive protein (hs-CRP), vascular endothelial growth factor (VEGF), and endothelin-1 (ET-1) were detected using enzyme-linked immunosorbent assay (ELISA). A 6-month following-up was conducted to compare the recurrence rates between the two groups. Results Ninety-four patients completed the treatment, with 47 cases in each group. All measured parameters, including symptoms (itching, pain), signs (elasticity, pigmentation), and serum markers (hs-CRP, ET-1), were significantly reduced from baseline to the end of treatment in both groups (all P<0.05), with further significant reductions at the 3-month follow-up (all P<0.05 vs. at the end of treatment). At the end of treatment, these scores were significantly lower in the photodynamic therapy group than in the focused ultrasound group (all P<0.05). No significant differences were observed after the 3-month follow-up (P>0.05). Serum VEGF levels increased significantly from baseline to the end of treatment in both groups (P<0.05), with a further increase at the 3-month follow-up (P<0.05 vs. at the end of treatment). The photodynamic therapy group had significantly higher serum VEGF levels than the focused ultrasound group at the end of treatment (P<0.05), with no significant difference between the two groups after the 3-month follow-up (P>0.05). No significant differences were observed between the two groups in clinical efficacy, total effective rates, total adverse reaction rates, or recurrence rates (P>0.05). Conclusions Focused ultrasound and photodynamic therapy demonstrate comparable clinical efficacy and safety in treating vulvar lichen sclerosus, with similar recurrence risks. However, photodynamic therapy exhibits a faster onset of action in controlling inflammation, promoting tissue repair, and alleviating symptoms and signs.
Objective To investigate the relationship between the severity of atopic dermatitis, and the composition and function of the skin microbiome. Methods A total of 130 patients with atopic dermatitis who were treated in our hospital from July 2021 to July 2024 were selected. The microbial specimens from the lesion-involved area were included in the observation group, while the specimens from the unaffected skin area of the flexor of the forearm served as the controls. The changes in microbial flora and α diversity were compared between the two groups. Additionally, the patients were divided into mild group (46 cases), moderate group (60 cases), and severe group (24 cases) based on the Atopic Dermatitis Score Index (SCORAD), and the α diversity of the skin microbial flora of the three groups was analyzed. The Pearson correlation was used to analyze the correlation between the α diversity of the skin microbial flora and the severity of the atopic dermatitis. The Kyoto Encyclopedia of Genes and Genomes (KEGG) was used to predict the functional pathways of skin microorganisms. Results The observation group and the control group shared a total of 625 operational taxonomic units (OTUs). The observation group had a total of 987 OTUs, with 362 being unique, while the control group had a total of 686 OTUs, with 61 being unique. Compared with the control group, the relative abundance of the Pseudomonadales in the observation group was significantly lower (t=18.96, P<0.05), while the relative abundance of the Bacillales was significantly higher (t=21.32, P<0.05). Compared with the control group, the ace index, chao index, and simpson index were higher, while the shannon index was lower in the observation group (P<0.001). The ace index, chao index, and simpson index of the mild group were lower than those of the moderate group, while the shannon index was higher than that of the moderate group. The ace index, chao index, and simpson index of the moderate group were lower than those of the severe group, while the shannon index was higher than that of the severe group (P<0.05). Pearson correlation analysis showed that the ace index, chao index, shannon index, and simpson index were significantly correlated with the severity of the disease (P<0.05). KEGG pathway analysis showed that the skin microbial functional genes in patients with atopic dermatitis were mainly related to carbohydrate metabolism and amino acid metabolism. Conclusion The diversity of the skin microbiota in atopic dermatitis-involved area differs from that in the uninvolved skin area, and the changes in the skin microbiota are associated with the disease progression.
Objective To explore the effectiveness of mind mapping combined with the traditional Chinese medicine mini-clinical evaluation exercise (TCM-Mini-CEX) teaching method in clinical practice teaching of TCM surgery. Methods Fifty-seven clinical internship students were enrolled in the Dermatology Department of the First Affiliated Hospital of Heilongjiang University of Traditional Chinese Medicine between September 2022 and December 2023. These students were divided into the control group (n=26) and the observation group (n=31). The control group received traditional practical teaching methods, which involved attending physicians conducting on-site lectures and teaching rounds, covering aspects such as precautions during patient consultations, disease diagnosis, and formulation of treatment plans. Instructors taught the observation group using mind mapping and the TCM-Mini-CEX by selecting representative cases to create mind maps and organized students to participate in simulated scenarios followed by mini-CEX assessments. After the course, both groups underwent a closed-book written examination to test their professional knowledge of dermatology. Their comprehensive clinical abilities were evaluated using the TCM-Mini-CEX assessment scale. Additionally, a questionnaire survey was conducted to assess students' satisfaction with the teaching method and their professional satisfaction. Results Compared with the control group, students in the observation group demonstrated a significant improvement in professional knowledge level (t=4.62,P<0.001). Their comprehensive clinical abilities, including medical history taking, physical examination, communication skills, clinical interpretation, humanistic care, organizational efficiency, and overall performance, were also significantly enhanced (all P<0.01). In addition, they expressed higher satisfaction with the teaching method and greater professional identity (all P<0.01). Conclusion The combination of mind mapping and TCM-Mini-CEX significantly enhances students' clinical practice skills and learning motivation.
We report two cases of refractory cutaneous warts successfully treated with a combination of superficial radiotherapy and topical 5-fluorouracil cream. Case 1: a 13-year-old girl presented with a 1-year history of periungual papules on both hands, exacerbated over the past 2 months. The patient had previously used multiple topical medications (tretinoin cream, imiquimod cream) and undergone liquid nitrogen cryotherapy, with poor response. Dermatological examination revealed multiple verrucous, hyperkeratotic papules around the nails of both hands, some of which were confluent and fissured. Diagnosis: Refractory cutaneous warts. Patient 2, a 16-year-old boy presented with a papule on the left big toe for one year, which had worsened over the past three months. The patient had previously undergone multiple sessions of cryotherapy with liquid nitrogen and topical medications (salicylic acid patches, imiquimod cream), but with poor efficacy. Dermatological examination revealed a yellow, verrucous, hyperkeratotic papule approximately 1 cm in diameter on the left big toe, with mild tenderness. Diagnosis: Refractory cutaneous warts. Both patients were treated with superficial X-ray radiotherapy (once weekly) combined with topical 2.5% fluorouracil cream under occlusion once a night. After 4-week treatment, the warts in patient 1 were almost completely resolved, leaving only dark erythema and hyperpigmentation. Patient 2 showed near-complete clearance after a 2-week treatment, with only residual dark erythema and hyperpigmentation. No recurrence was observed in either patient during a 3-month follow-up period.
We report a case of post-traumatic tuberculosis verrucosa cutis. A 38-year-old man presented with a 20-year history of an annular plaque on the left buttock following a local trauma. Dermatological examination revealed an annular, infiltrated, dark red plaque with a raised border and central atrophic scar on the left buttock. Histopathological examination showed fibroplasia in the dermis and inflammatory granulomas with multinucleated giant cells. Acid-fast staining was negative. T-Spot test was positive. Mycobacterium tuberculosis DNA PCR was negative. Diagnosis: tuberculosis verrucosa cutis. Following 6-month anti-tuberculosis therapy, the lesion healed with residual scar and post-inflammatory hyperpigmentation. No recurrence was observed over 2 years of follow-up.
HIV and sexually transmitted infections (STIs) are critical global public health issues. In resource-constrained settings, the accurate identification of high-risk populations is critical for the effective prevention of HIV/STI transmission. As a pivotal subset of artificial intelligence, machine learning offers advanced capabilities in data processing and pattern recognition, providing novel approaches for risk assessment in HIV/STIs, and is an emerging focus of research in this field. This review summarizes recent advances in machine learning for assessing the risk of HIV/STI infections, with a focus on comparing the strengths and limitations of different algorithms. It provides an in-depth analysis of the main risk factors among various high-risk populations and discusses the shortcomings and challenges of current research regarding sample representativeness, model interpretability, and integration with intervention strategies. The aim is to provide rational and practical guidance for future research.
Neutrophilic dermatoses (NDs) are a group of non-infectious inflammatory disorders characterized by aseptic neutrophilic infiltration. Pro-inflammatory cytokines, including IL-1β, IL-17, and TNF-α, play pivotal roles in the pathogenesis of these conditions. Although glucocorticoids and immunosuppressive agents still serve as the primary treatment modalities, biologics and small molecule targeted therapies have become a major focus of recent research. This article reviews the recent advances in the application of such emerging drugs for the treatment of NDs, including the mechanisms of action and clinical efficacy of TNF-α inhibitors, IL-1 inhibitors, and other biologics. It also evaluates the level of evidence from relevant literature, aiming to provide a reference for the clinical management of refractory and recurrent neutrophilic dermatoses.
Enlarged pores are a common dermatological and aesthetic concern. While they do not pose direct health risks, they significantly impact skin appearance and patients' psychological well-being. The core pathophysiological mechanisms primarily involve excessive sebum production, decreased skin elasticity around pores, and increased hair follicle volume. Clinical manifestations are influenced by various intrinsic and extrinsic factors. Current mainstream detection methods include subjective assessment scales, imaging techniques (e.g., VISIA® and Antera 3D®), optical measurements (e.g., OCT and RCM), and AI-based digital image analysis, each with distinct advantages and limitations. Future efforts should focus on advancing portable devices, deeper integration of artificial intelligence, and promoting personalized health management. This review summarizes recent advances in understanding enlarged pores and their detection technologies, providing new insights to advance clinical studies and remote health management.
