BACKGROUND: Generalized pustular psoriasis (GPP), a rare and recurrent autoinflammatory disease, imposes a substantial burden on patients and society. Awareness of GPP in China remains limited. METHODS: This cross-sectional survey, conducted between September 2021 and May 2023 across 14 hospitals in China, included GPP patients of all ages and disease phases. Data collected encompassed demographics, clinical characteristics, economic impact, disease severity, quality of life, and treatment-related complications. Risk factors for GPP recurrence were analyzed. RESULTS: Among 127 patients (female/male ratio = 1.35:1), the mean age of disease onset was 25 years (1st quartile [Q1]-3rd quartile [Q3]: 11-44 years); 29.2% had experienced GPP for more than 10 years. Recurrence occurred in 75.6% of patients, and nearly half reported no identifiable triggers. Younger age at disease onset ( P  = 0.021) and transitioning to plaque psoriasis ( P  = 0.022) were associated with higher recurrence rates. The median diagnostic delay was 8 months (Q1-Q3: 2-41 months), and 32.3% of patients reported misdiagnoses. Comorbidities were present in 53.5% of patients, whereas 51.1% experienced systemic complications during treatment. Depression and anxiety affected 84.5% and 95.6% of patients, respectively. During GPP flares, the median Dermatology Life Quality Index score was 19.0 (Q1-Q3: 13.0-23.5). This score showed significant differences between patients with and without systemic symptoms; it demonstrated correlations with both depression and anxiety scores. Treatment costs caused financial hardship in 55.9% of patients, underscoring the burden associated with GPP. CONCLUSIONS The substantial disease and economic burdens among Chinese GPP patients warrant increased attention. Patients with early onset disease and those transitioning to plaque psoriasis require targeted interventions to mitigate the high recurrence risk.
Humans ; Male ; Female ; Psoriasis/pathology* ; Adult ; Cross-Sectional Studies ; Adolescent ; Child ; Young Adult ; Quality of Life ; Middle Aged ; China/epidemiology* ; Recurrence ; Risk Factors ; Surveys and Questionnaires ; East Asian People

Objective To evaluate the efficacy of benvitimod on allergic contact dermatitis (ACD) in a mouse model of allergic contact dermatitis.Methods Acute and chronic ACD models were established respectively in 42 BALB/c mice through 2,4-dinitrofluorobenzene (DNFB) sensitization and challenge.Then,the BALB/c mice were equally divided into 7 groups with 6 mice in every group:normal control group receiving no treatment,five treatment groups topically treated with 0.1％ dexamethasone solution,0.1％ tacrolimus (FK506) solution,0.5％ benvitimod solution,1.0％ benvitimod solution and 2.0 ％ benvitimod solution respectively,and dehydrated alcohol group treated with dehydrated alcohol only.All the drug solutions were topically applied at 24 and 36 hours after the last challenge in the murine models of acute ACD which were sacrificed at 48 hours,and twice daily from day 7 to 21 after the initial sensitization in the murine models of chronic ACD which were sacrificed on day 21 after the first topical treatment.Ear tissues were obtained from these mice and subjected to measurement of ear thickness and weight,as well as pathological examination and evaluation of inflammatory infiltrate by hematoxylin-eosin (HE) staining.The safety of these drugs was also estimated at the end of treatment.Results In the murine models of acute ACD,benvitimod showed no obvious therapeutic effect at 24 hours,with no significant differences in bilateral difference in ear thickness or weight between the three benvitimod groups and dehydrated alcohol group (all P ＞ 0.05).Meanwhile,in the murine models of chronic ACD,benvitimod markedly decreased the swelling degree of ears,with significant differences between the three benvitimod groups (0.5％,1.0％ and 2.0％) and dehydrated alcohol group in bilateral difference in ear thickness ((71.50 ± 3.15) × 10-3 mm,(75.50 ± 3.02) × 10-3 mm and (69.50 ± 2.59) × 10-3 mm vs.(91.83 ± 2.04) × 10-3 mm,all P＜ 0.01) and weight ((2.33 ± 0.45) mg,(2.30 ± 0.57) mg and (2.38 ± 0.27) mg vs.(3.73 ± 0.33) mg,all P ＜ 0.01) after 3 weeks of treatment.The inflammatory infiltration in ear tissue was significantly attenuated in murine models of both acute and chronic ACD by the three concentrations of benvitimod compared with dehydrated alcohol (all P ＜ 0.01).Conclusions Topical benvitimod can inhibit chronic ACD in mice induced by 2,4-DNFB,but exhibits no obvious effect on acute ACD.No apparent local adverse effects were observed during the treatment with benvitimod in these mice.

Aged ; Breast Neoplasms ; complications ; Female ; Humans ; Skin Neoplasms ; diagnosis ; etiology

Objective To identify gene mutations in two families with epidermolytic hyperkeratosis (EHK).Methods Clinical data were collected from two families with EHK.Peripheral blood was isolated from the probands and unaffected family members in the families as well as from 50 healthy controls.PCR was performed to amplify the encoding exons and flanking intron regions of KRT1 and KRT10 genes followed by direct DNA sequencing.Results Two mutations in the KRT10 gene,including a heterozygous acceptor splice site mutation in intron 4 (c.1030-2 A＞G) and a heterozygous missense mutation c.467 G＞A,were identified in the probands of both families,but absent in the unaffected family members or healthy controls.ConclusionThe splice site mutation c.1030-2 A＞G and missense mutation c.467 G＞A might be responsible for the phenotype of EHK in the two families.

Objective To observe the expression of Toll-like receptors (TLRs) 2,4 and 9 in lesions of lupus vulgaris and tuberculosis verrucosa cutis,and to evaluate the possible roles of these receptors in the pathogenesis of cutaneous tuberculosis.Methods Skin specimens were obtained from the lesions of 18 patients with clinically and pathologically diagnosed lupus vulgaris or tuberculosis verrucosa cutis,15 patients with plaque-type psoriasis (positive control),and from perilesional normal skin of 10 patients with pigmented nevi (negative control).Immunohistochemistry was used to detect the expression of TLRs 2,4 and 9 in these specimens,and the expression intensity was expressed as absorbence values.Data were analysed by using the SPSS 13.0 software,and t test was conducted to assess the differences between the three groups of specimens.Results TLR-2 was observed mainly in the middle and upper layer of epidermis in lesions of cutaneous tuberculosis and psoriasis,and in the whole epidermis except the basal layer in normal skin,with no significant difference in the expression intensity between the three groups of specimens (0.25 ± 0.04 vs.0.25 ± 0.05 vs.0.28 ± 0.03,P ＞ 0.05).TLR-4 was weakly expressed in cutaneous tuberculosis lesions,absent or slightly expressed in normal skin and psoriatic lesions,and the expression level of TLR-4 was significantly higher in cutaneous tuberculosis lesions than in normal skin and psoriatic lesions (0.16 ± 0.07 vs.0.07 ± 0.09 and 0.02± 0.05,t =2.58,6.24,P ＜ 0.01 and 0.05).TLR-9 was expressed in the whole epidermal layer,including appendages and vascular walls,of cutaneous tuberculosis and normal skin,with a significant increase in cutaneous tuberculosis than in the normal skin (0.25 ± 0.05 vs.0.19 ± 0.05,t =2.88,P＜ 0.05).Conclusions TLRs 2,4 and 9 are all expressed in cutaneous tuberculosis losious,and the expression intensity of TLR-4 and TLR-9 is higher in cutaneous tuberculosis lesions than in normal skin,hinting that TLR-4 and TLR-9 play a certain role in the immune response of cutaneous tuberculosis.

Objective To observe the expressions of antimicrobial peptides LL-37,human beta defensin2 (HBD-2) and HBD-3 in the lesions of lupus vulgaris and tuberculosis verrucosa cutis,and to speculate the pathogenesis of cutaneous tuberculosis.Methods Tissue specimens were collected from the lesions of 18 patients with lupus vulgaris or tuberculosis verrucosa cutis and 15 patients with psoriasis,as well as from the normal skin of 10 healthy controls.The specimens were embedded by paraffin and subjected to an immunohistochemical analysis for the detection of antimicrobial peptides LL-37,HBD-2 and HBD-3.Statistical analysis was performed by using the SPSS 13.0 software package,and t test was carried out to compare the expressions of LL-37,HBD-2 and HBD-3 between these groups.Results LL-37 and HBD-2 were observed mainly in the upper and middle layer of the epidermis,appendages and vascular endothelial cells in cutaneous tuberculosis lesions.The expression levels of LL-37 and HBD-2 were significantly higher in tuberculosis lesions than in the normal skin (t =2.632,2.399,both P ＜ 0.05).Psoriatic and tuberculosis lesions shared a similar expression pattern for LL-37 and HBD-2.HBD-3 was absent in the lesions of cutaneous tuberculosis,but present in both psoriatic lesions and normal skin.Conclusions Both LL-37 and HBD-2 may participate in the immune response in cutaneous tuberculosis,while the absence of HBD-3 may contribute to the pathogenesis of cutaneous tuberculosis.