BackgroundRothmund–Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis typically associated with mutations in the RECQL4 gene. However, some clinically diagnosed cases lack such variants, indicating genetic heterogeneity. ANAPC1, encoding a subunit of the anaphase-promoting complex (APC/C), has been implicated in RTS type 1, but its involvement in hair disorders remains unexplored.Case presentationWe report the case of a 29-year-old man who presented with lifelong sparse, fine scalp hair, bilateral malar erythema, soft fingernails, and dental anomalies (malocclusion with multiple caries). Routine laboratory tests were unremarkable except for reduced vitamins B1, B2, B6, and B9 (November 2024). Whole-exome sequencing (approximately 20,000 genes) identified a variant of uncertain significance in ANAPC1 (NM_022662.4:c.4907T>C, p.Val1636Ala); no reportable variants were found in ACMG-recommended secondary findings genes. Combination therapy (trazodone 50 mg qn, tanshinone capsules 1 g qid, isotretinoin 20 mg qod, topical halcinonide 10 mL mixed with minoxidil 60 mL 1 mL bid, and multivitamins 2 tablets tid) was initiated in November 2024. After 6 months, follow-up trichoscopy (May 2025) showed increased hair density and shaft thickness.ConclusionWe describe a patient with a Rothmund–Thomson syndrome-like phenotype who carried a heterozygous ANAPC1 variant of uncertain significance (VUS) and showed trichoscopic improvement after combination therapy. This singular observation hints at a possible phenotypic expansion associated with ANAPC1 but cannot establish a new genotype–phenotype correlation. The clinical improvement underscores that symptomatic management can be beneficial in complex genodermatoses, even in the absence of a definitive molecular diagnosis. The pathogenicity of the ANAPC1 VUS remains unconfirmed, necessitating functional validation and segregation studies in future research.

Objective:To describe the clinical features and genetic findings in a child with hypotrichosis type 14 (HYPT14, OMIM: 618275) complicated by ectodermal dysplasia type 14 (ED14, OMIM: 618180) harboring compound heterozygous variants in LSS (OMIM: 600909) and a heterozygous variant in TSPEAR (OMIM: 612920), to summarize the potential phenotypic impact of concurrent variants in both genes, and to provide evidence relevant to diagnosis and mechanistic investigation of related diseases. Methods:Clinical data were collected. Peripheral blood samples from the child and his mother were obtained for next-generation sequencing-based variant screening. Sanger sequencing was used for segregation analysis of candidate variants. In addition, relevant studies were reviewed to contextualize the reported phenotypes associated with LSS and TSPEAR variants and to discuss potential biological interactions. Results:The child carried compound heterozygous variants in LSS: c.1025T>G; p.(Ile342Ser) and c.3G>A (maternally inherited), and a heterozygous variant in TSPEAR, c.872G>A; p.(Arg291Gln). All variants were classified as variants of uncertain significance (VUS) under current ACMG criteria, and a definitive causal relationship with the phenotype cannot be established at present. Nevertheless, the patient's phenotype showed overlap with reported features of HYPT14 and ED14 and adds clinical data that may support future variant reclassification as additional evidence accumulates. Immunomodulatory therapy, including a JAK inhibitor, produced only a transient response and did not result in sustained hair regrowth. Conclusion:Coexisting LSS and TSPEAR variants may contribute to a phenotype of HYPT14 complicated by ED14 in this child. Because the variants remain VUS, genotype-phenotype inferences should be made cautiously. The findings raise the possibility that oligogenic effects may exacerbate ectodermal abnormalities. To our knowledge, this is the first reported case of digenic inheritance involving LSS and TSPEAR, which expands the clinical spectrum of LSS- and TSPEAR-associated disorders and supports consideration of broader genetic testing in children with congenital hypotrichosis and ectodermal features.

患儿女, 9岁。出生时头发卷曲, 前囟门两侧头发稀疏, 睫毛、眉毛正常。6个月后头发生长缓慢, 至4 ～ 5 cm后停止生长, 头发稀疏、卷曲, 颜色发黄, 发质粗糙无光泽, 易缠绕打结, 易扯断, 不易梳通。患儿生长发育正常。既往体健, 足月顺产, 母亲产检正常, 父母非近亲结婚, 均体健且毛发正常, 家族成员中无类似疾病患者。

Hypotrichosis simplex of the scalp (HSS) is a clinically rare monogenic autosomal dominant disorder associated with variants in the gene CDSN, which encodes the desmosome protein corneodesmosin. Although studies have reported that some medications can improve the symptoms of hair loss in HSS, there is still a lack of definitive and effective treatments for this disease. We report a familial case of HSS in an 8-year-old male child diagnosed with HSS caused by a mutation in CDSN, who was treated with botanical extracts in combination with minoxidil, which resulted in significant hair growth after two treatments. This is the first study describing the improvement of clinical symptoms of HSS with oral botanical extracts. This suggests that botanical extracts in combination with minoxidil may be a therapeutic approach for HSS in the clinic.

BACKGROUND:Boosting myelin repair is widely recognized as one of the most powerful approaches for demyelinating therapy, essentially contributing to the recovery of neurological functions. Maintaining immune homeostasis in microglia is a prerequisite for creating a reparative environment for myelin. Dihydroartemisinin (DHA) is clinically effective in reshaping immunological status and implies potential in treating demyelinating disease. However, its relevance to pro-remyelination remains unclear. METHODS:We first evaluated the effects of DHA on neurofunctional recovery and white matter integrity in chronic experimental autoimmune encephalomyelitis (EAE), an ideal model for secondary progressive multiple sclerosis (SPMS) characterized by remyelination deficiency. Single-cell sequencing and microglial depletion with PLX3397 in vivo were used to reveal the dependency between DHA and microglia. The effect of DHA on the reparative phenotype of microglia, particularly on cholesterol recycling and differentiation of oligodendrocyte progenitor cells (OPCs), was evaluated in microglia-OPCs unit either in vitro or in vivo challenged with myelin debris. Finally, to broaden the clinical application for DHA in myelin repair, it was tested in the cuprizone (CPZ) model which shows remyelination failure, a condition common in various neurodegenerative diseases. RESULTS:We demonstrated for the first time that DHA enhanced white matter integrity and OPCs proliferation and differentiation. This effect is dependent on the transition of microglia to a reparative phenotype. Specifically, DHA increased the secretion of inflammatory-resolving and neurotrophic cytokines. It further functionalized cholesterol recycling and provided metabolic support for myelin regeneration predominantly mediated by liver X receptor (LXR) in microglia. This was evidenced by the promotion of myelin debris uptake, cholesterol catabolism, efflux and transport. Notably, DHA promoted remyelination and neurological functional recovery in CPZ-induced demyelinating model, supporting its potential application in neurodegenerative diseases featuring insufficient remyelination. CONCLUSION:By highlighting the importance of microglia in promoting myelin regeneration, our study proved DHA as a promising candidate for promoting remyelination.

PURPOSE:This study assessed the effectiveness and tolerance of a medicated shampoo containing selenium sulfide and salicylic acid in seborrheic dermatitis patients, examining gender-based efficacy differences. METHODS:In this cross-sectional study, 560 seborrheic dermatitis patients from Chinese hospitals used the medicated shampoo for approximately 21 days. Patients self-rated scalp and hair conditions before and after treatment, with scores ≥4 defined as good effectiveness/tolerance. RESULTS:Among participants (median age 30, 41.6% male), significant improvements occurred in dandruff, scalp redness, itching, and greasiness (all p < .001). Females demonstrated lower rates of good effectiveness (87.5% vs. 93.6%) and tolerance (93.9% vs. 99.6%; p = .018) than males. After adjustment, females had higher odds of poorer effectiveness (OR: 0.447, 95% confidence interval (95% CI): 0.230-0.835; p = .009) and tolerance (OR: 0.066, 95% CI: 0.004-0.326; p = .009). CONCLUSIONS:Females also showed less improvement in oily hair, hair quality, and hair loss compared to males. The medicated shampoo effectively reduced seborrheic dermatitis symptoms, with better outcomes in males, suggesting gender may influence treatment response.

INTRODUCTION:Androgenetic alopecia (AGA), the most prevalent form of hair loss in clinical practice, affects 21.3% of the male population in China. The condition significantly impacts patients' self-perception, psychological well-being and quality of life. Preliminary evidence suggests that acupoint catgut embedding (ACE) may offer therapeutic benefits for AGA. This randomised controlled trial aims to evaluate the efficacy and safety of ACE combined with topical 5% minoxidil tincture in managing AGA. METHODS AND ANALYSIS:This is a single-centre, prospective, double-blind, randomised controlled trial. A total of 70 male patients with AGA will be randomly allocated to either the ACE group (ACE combined with topical minoxidil) or the control group (sham ACE combined with topical minoxidil) at a 1:1 ratio. All participants will receive standardised topical 5% minoxidil therapy during the 24-week intervention period, with concomitant administration of either ACE or sham ACE (needle insertion mimicking ACE protocol without suture implantation) at 4-week intervals. Post-treatment follow-up will extend for 24 weeks. The primary outcome measure will be the change in the number of target area hair count (TAHC) after 24 weeks of treatment compared with the baseline. Secondary outcomes will include hair growth assessment, changes in the number of TAHC, changes in the diameter of target area cumulative non-vellus hair width and changes in sex hormone levels. Statistical significance will be defined as a two-sided p value<0.05. ETHICS AND DISSEMINATION:This study has been approved by the clinical research ethics committee of China-Japan Friendship Hospital (project number: 2023-KY-304) and requires written informed consent from the patients. The results will be published in a peer-reviewed academic journal. TRIAL REGISTRATION NUMBER:ChiCTR2300078123.

Psoriasis is a significant global health challenge due to limited treatment efficacy. Paris saponin VII (PSVII) shows anti-inflammatory and anti-proliferative potential but its role in psoriasis is unclear. In this study, PSVII was identified from a library of natural compounds as a therapeutic candidate for psoriasis. In a murine model, PSVII reduced skin lesion severity, epidermal thickness, and inflammatory factor expression, preliminaryly indicating its anti-inflammatory properties. In vitro, PSVII inhibited HaCaT cell hyperproliferation, regulated the cell cycle, induced apoptosis, and modulated reactive oxygen species (ROS). Bioinformatics analyses suggested that signal transducer and activator of transcription 3 (STAT3), cysteine aspartate specific protease 1 (Caspase-1), and the process of pyroptosis are likely targets and mechanisms of PSVII action. PSVII could reduce cell mortality in psoriatic cells and lowered expression levels of NLR Family Pyrin Domain Containing 3 (NLRP3), Caspase-1, Gasdermin D (GSDMD), Interleukins (IL)-18, and IL-1β, underscoring its potential role in modulating pyroptosis within these cells. Mechanistically, PSVII may suppress the STAT3/nuclear factor kappa B (NFκB) signaling pathway. Consequently, PSVII plays a significant role in psoriasis management. PSVII could modulate pyroptotic cell death in psoriatic cells by targeting the STAT3/NFκB signaling cascade, leading to anti-inflammatory and anti-proliferative effects, and thereby ameliorating psoriasis symptoms.

An 8-year-old female child presented with patchy hair loss for 1 year, accompanied by eyebrow loss for 6 months. Microscopic examination of the hair confirmed the features of active stage alopecia areata, with a Severity of Alopecia Tool (SALT) score of 70%. The diagnosis was severe alopecia areata. The patient had a history of atopic dermatitis since infancy, with recurrent episodes of scattered papules and pruritus for 8 years. Initial treatment involved subcutaneous injections of dupilumab 300mg every 2 weeks for 6 months, resulting in a reduction of SALT score to 20% and improvement of atopic dermatitis symptoms. Discontinuation of Dupilumab and initiation of daily oral Baricitinib at a dose of 2mg for a duration of 5 months. According to the SALT score evaluation, the severity of hair loss was less than 10% and there was significant regrowth of hair. No significant adverse reactions were observed during the treatment period.

Background Psoriasis, characterized by chronic inflammation, is a persistent skin condition that is notoriously challenging to manage and prone to relapse. Despite significant advancements in its treatment, many adverse reactions still occur. Therefore, exploring the mechanisms behind the occurrence and development of psoriasis is extremely important. Methods The weighted correlation network analysis (WGCNA) algorithm was used to identify phenotype-related genes in patients with psoriasis. We recruited clinical samples of patients with psoriasis, and used single-cell RNA sequencing (scRNA-seq) to visualize divergent genes and metabolisms of varied cells for the psoriasis. Various machine-learning methods were used to identify core genes, and molecular docking was used to analyze the stability of leptomycin B targeting pituitary tumor transforming 1 (PTTG1). Immunofluorescence (IHC) analysis, multiplex immunofluorescence (mIF) analysis, and quantitative reverse transcription polymerase chain reaction (qRT-PCR) were used to validate the results. Results Our results identified 1391 genes associated with the phenotype in patients with psoriasis and highlighted the significant alterations in T-cell functionality observed in the disease by WGCNA. There were nine distinct cellular clusters in psoriasis analyzed with the aid of scRNA-seq data. Each subtype of cell exhibited distinct genetic profiles, functional roles, signaling mechanisms, and metabolic characteristics. Machine-learning methods further demonstrated the potential diagnostic value of T cell-derived PTTG1 and its relationship with T-cell exhaustion in psoriasis. Lastly, the leptomycin B was scrutinized and verified had high stability targeting PTTG1. Conclusions This study elucidates the biological basis of psoriasis. At the same time, it was discovered that PTTG1 derived from exhausted T cells serves as a diagnostic biomarker for psoriasis. Leptomycin B could be a potential drug for targeted treatment of psoriasis on PTTG1.

Purpose We aim to explore a potential treatment strategy for hair loss.Materials and methods A male 6-year-old child was diagnosed with hidrotic ectodermal dysplasia 2 (HED2) caused by GJB6 (p.G11R) mutations. He presented at our clinic with diffuse thinning and fine and brittle hair since birth. Additionally, the child exhibited abnormal development of teeth, fingernails, and toenails. The condition of the child’s hair had not improved significantly with age. He was treated with botanical extracts combined with Minoxidil.Results After one and a half months of treatment, the patient showed remarkable hair growth.Conclusions Our team has previously used botanical extracts in combination for the treatment of autosomal recessive wooly hair in children. In the present case, treatment with botanical extract combined with minoxidil was found to be equally efficacious. This case report provides valuable information for future studies on the use of botanical extracts in treating hair loss, as well as a safe and effective potential treatment strategy for children with congenital alopecia.

BackgroundThere is a strong correlation between alopecia areata (AA) and the development of white hair. The AA presents itself in many clinical manifestations of depigmented hair as the condition advances. It is uncommon for unpigmented hair to extensively regrow for more than one hair growth cycle in AA and successful conversion to pigmented hair after treatment has not yet been reported.AimWe report two case studies involving the persistent regrowth of white hair after AA that became pigmented through treatment.PatientsIn the first case study, a 47-year-old woman with AA exhibited a fully regrown head of hair, which remained unpigmented. However, after 2 years of treatment with oral methylprednisolone and compound glycopyrrolate, her hair eventually regained its normal pigmentation. In the second case study, a 7-year-old boy with diffuse AA received compound glycyrrhizin (50 mg once daily) and methylprednisolone (4 mg orally once daily) for 3 years.ResultsThe both patients experienced regrowth of black hair on his entire head, with occasional white hairs. It is hypothesized that the aforementioned medications may regulate immunity by influencing melanocytes or melanin-associated antigens; however, the precise mechanism must be validated through additional histopathological and molecular analysis.ConclusionA larger patient group, possibly in randomized controlled trials, is needed to determine how the indicated treatment affects hair repigmentation after AA. Therefore, more patients must be included for more substantial outcomes from this study.

Background: Pathological scars are a disorder that can lead to various cosmetic, psychological, and functional problems, and no effective assessment methods are currently available. Assessment and treatment of pathological scars are based on cutaneous manifestations. A two-photon microscope (TPM) with the potential for real-time non-invasive assessment may help determine the under-surface pathophysiological conditions in vivo . This study used a portable handheld TPM to image epidermal cells and dermal collagen structures in pathological scars and normal skin in vivo to evaluate the effectiveness of treatment in scar patients. Methods: Fifteen patients with pathological scars and three healthy controls were recruited. Imaging was performed using a portable handheld TPM. Five indexes were extracted from two dimensional (2D) and three dimensional (3D) perspectives, including collagen depth, dermo-epidermal junction (DEJ) contour ratio, thickness, orientation, and occupation (proportion of collagen fibers in the field of view) of collagen. Two depth-dependent indexes were computed through the 3D second harmonic generation image and three morphology-related indexes from the 2D images. We assessed index differences between scar and normal skin and changes before and after treatment. Results: Pathological scars and normal skin differed markedly regarding the epidermal morphological structure and the spectral characteristics of collagen fibers. Five indexes were employed to distinguish between normal skin and scar tissue. Statistically significant differences were found in average depth ( t = 9.917, P <0.001), thickness ( t = 4.037, P <0.001), occupation ( t = 2.169, P <0.050), orientation of collagen ( t = 3.669, P <0.001), and the DEJ contour ratio ( t = 5.105, P <0.001). Conclusions: Use of portable handheld TPM can distinguish collagen from skin tissues; thus, it is more suitable for scar imaging than reflectance confocal microscopy. Thus, a TPM may be an auxiliary tool for scar treatment selection and assessing treatment efficacy.

目的 系统评价活血通络法治疗慢性肾功能衰竭(Chronic renal failure,CRF)的有效性和安全性.方法 计算机检索CNKI、万方数据库、维普网、SinoMed、PubMed、EMbase和Cochrane Library数据库,检索时限为建库至2022 年4 月,筛选活血通络法治疗CRF的临床随机对照试验(Randomized controlled trial,RCT),采用Co-chrane风险偏倚评估工具进行文献质量评价,使用RevMan 5.4.1 软件进行统计学分析.结果 纳入符合标准的文献16 篇,共 1408 例患者.Meta分析结果显示:活血通络法联合西医常规治疗CRF可进一步提高临床疗效(OR =2.85,95%CI[2.20,3.69],P＜0.000 01),降低Scr(SMD =-0.84,95%CI[-1.19,-0.50],P＜0.000 01)、BUN(SMD=-0.59,95%CI[-0.82,-0.36],P＜0.000 01)、24 h UTP(MD=-0.29,95%CI[-0.49,-0.10],P =0.004)、提高Ccr(MD=7.88,95%CI[6.61,9.15],P＜0.000 01)、eGFR(MD =4.08,95%CI[1.91,6.25],P = 0.0002)且与常规西医治疗比较,无明显不良反应(OR =1.08,95%CI[0.07,16.99],P=0.96).结论 活血通络法治疗CRF具有良好临床疗效,且具有一定的安全性,由于纳入研究文献质量及方法学质量欠佳,仍需高质量、多中心、大样本的RCT研究进一步验证.

患者,女,61岁,因头皮红斑2个月于2021年10月25日就诊于中日友好医院皮肤科.患者2个月前出现右侧头颞侧皮肤指甲盖大小红斑,无疼痛、瘙痒,红斑逐渐隆起呈斑块,面积不断扩大,1个月前出现面部轻微肿胀,现斑块面积仍在扩大,已达手掌大小.患者既往高血压病史20余年,冠心病病史16年,心脏支架植入术后16年,糖尿病病史10年,规律注射胰岛素,血糖控制可,否认放化疗接触史,家族无类似病史及肿瘤病史.

Abstract Background Alopecia areata (AA), cutaneous lupus erythematosus (CLE), and psoriasis are diseases that often affect the scalp. AA and CLE often lead to hair loss, whereas psoriasis does not. The underlying mechanisms contributing to these differential prognoses remain unclear. Methods Microarray datasets of the three scalp diseases were collected from the GEO database and were integrated by sva R package. Differentially expressed genes (DEGs) were identified by the limma R package. Generally Applicable Gene-set Enrichment (GAGE), CIBERSORT algorithm, and Gene set variation analysis (GSVA) was utilized to access the functional, immune infiltration, and T helper 1/2/17 Chemokine signature changes in diseases with or without hair loss. qRT-PCR, immunofluorescence, and immunohistochemical staining were used to detect gene expression alteration among diseases from patients and mouse models. Results We identified shared gene expression changes associated with T cell chemotaxis and interferon-β response in scalp autoimmune diseases. In addition to the expected reduction in intermediate and keratin filaments, four functional changes associated with alopecia were found, including intestinal immune network for IgA, cell adhesion molecules, natural killer cell-mediated cytotoxicity, and complement and coagulation cascades. Immune infiltration analysis revealed increased infiltration of CD8 + T cells, NK cells, and mast cells in AA and CLE, while CD4 + cells were the predominant infiltrating immune cells in scalp psoriasis. Furthermore, scalp psoriasis exhibited a distinct Th17/Th1 profile, elevated CCL4 levels, and more CCR5 + Foxp3 + cells infiltration around the hair follicle. Conclusion Our study identified shared pathways and immune cells involved in hair loss and revealed a prominent perifollicular infiltration model of CD4 + T cells and an increased CCL4-CCR5 axis in scalp psoriasis, which may contribute to hair preservation in psoriasis patients. These findings provided valuable insights for developing therapeutic strategies for inflammatory alopecia.

重度抑郁症(MDD)目前高度流行,以高级神经障碍为主要病理表现.大脑灰质作为高级神经活动的生理功能承载者,成为MDD治疗的重点.但近年来文献表明,中枢神经系统(CNS)中白质与灰质彼此相对独立,功能整合联动.MDD除灰质损伤外,白质损伤同样是疾病进展的核心驱动事件,决定了疾病转归.治疗层面,目前MDD的药物治疗主要以灰质修复为主要焦点之一,而忽略了白质完整性对于疾病治疗的重要性,成为目前MDD治疗的短板.中医药在白质修复中具有良好的应用潜能.该文从以下3点展开论述:①总结梳理白质损伤在MDD发生发展中的作用;②以小胶质细胞的微环境调节为切入点,阐述MDD中白质修复的关键环节;③分析中医药在MDD中白质修复的应用价值.该综述旨在凸显白质完整性在MDD治疗中的重要性,有望从白质修复的角度拓展相关中药在MDD中的活性认识维度,解析其潜在应用价值.

目的 探究男性雄激素性秃发患者的中医证候分布特点.方法 回顾性收集 2020 年 1-12 月中日友好医院毛发医学中心收治的1 000 例男性雄激素性秃发患者的临床资料.采用自行设计的中医症状调查表收集四诊信息,使用Excel软件和SPSS 26.0 软件进行描述性频数分析、因子-聚类分析和卡方检验,归纳出主要中医证候及症状分布规律.结果 1 000 例男性雄激素性秃发患者中,按频数统计,排在前5 位的症状依次为:头皮出油(94.6%)、头皮脱屑(73.0%)、头皮瘙痒(71.2%)、情志抑郁(67.5%)、倦怠乏力(66.3%).根据因子-聚类分析得出的 4 种中医证候依次为湿热内蕴证(34.6%)、肝郁脾虚证(28.7%)、血热风燥证(22.2%)、肝肾亏虚证(14.5%).20～＜30 岁患者以湿热内蕴证为主,30～＜40 岁患者以肝郁脾虚证为主,40～＜50 岁患者以湿热内蕴证为主.30～＜40 岁患者的中医证候分布比较差异有统计学意义(P＜0.05).结论 男性雄激素性秃发以湿热内蕴证、肝郁脾虚证为主,不同年龄段的证候分布存在差异.因子-聚类分析结果结合临床经验探讨中医证候,对男性雄激素性秃发的临床辨证论治具有参考性.