Patients frequently present to allergy and immunology clinics with cutaneous complaints attributed to self-perceived allergic conditions; however, many have non-allergic dermatologic diseases. We aimed to evaluate the demographic and clinical characteristics of non-allergic patients with dermatologic complaints. In this prospective study, patients presenting between June 1 and December 31, 2025, who received a non-allergic dermatologic diagnosis were included. Initial assessments were conducted in the immunology and allergy clinic, with dermatology consultation when needed. Demographic data, symptom characteristics and duration, prior dermatology visits, and final diagnoses were recorded. A total of 218 patients were included. Median age was 45 years; 68.3% were female. Median symptom duration was 10.5 months, with 57.8% experiencing symptoms >3 months. Previous dermatology clinic applications were reported by 62.4%. Allergy beliefs included unspecified (49.5%), food-related (22.5%), drug-related (9.6%), and no suspicion (18.4%). The most frequent symptom was pruritus (83.9%). Common diagnoses included xerosis cutis (26.6%), insect bite reactions (10.6%), prurigo simplex (8.3%), seborrheic dermatitis (6.4%), acne vulgaris (6.0%), and rosacea (6.0%). Allergy-related beliefs were not significantly associated with age, sex, education, or symptom duration. Longer symptom duration was associated with a higher likelihood of previous dermatology visits (p<0.001). Non-allergic dermatologic conditions are common among patients with self-perceived allergic dermatologic conditions presenting to immunology and allergy clinics. Improved triage, interdisciplinary collaboration, and public education may reduce misinterpretation and unnecessary healthcare utilization.
To analyze the clinical heterogeneity of cutaneous manifestations in systemic lupus erythematosus (SLE) and the features of coexisting dermatologic conditions in these patients. The single-center cross-sectional study included 210 patients with SLE followed at Nasonova Research Institute of Rheumatology. Clinical, laboratory, and instrumental parameters were assessed, including disease activity (SLEDAI-2K [Systemic Lupus Erythematosus Disease Activity Index 2000], SLE-DAS [Systemic Lupus Erythematosus Disease Activity Score]), organ damage (Damage Index of SLICC/ACR [Systemic Lupus International Collaborating Clinics / American College of Rheumatology]), and cutaneous manifestations using the CLASI (Cutaneous Lupus Disease Area and Severity Index), R-CLASI (Revised Cutaneous Lupus Erythematosus Disease Areas and Severity Index), and the mucocutaneous domain of Easy-BILAG (Easy British Isles Lupus Assessment Group). Coexisting dermatologic conditions and skin changes not directly related to SLE activity were additionally analyzed. Cutaneous and mucosal involvement was observed in 85% of patients during the disease course and represented one of the most frequent manifestations at SLE onset. At study inclusion, active mucocutaneous manifestations were present in 50% of patients. Cutaneous involvement was characterized by marked clinical heterogeneity and a high prevalence of overlapping phenotypes, including acute and chronic cutaneous lupus, mucosal lesions, and non-scarring alopecia. Active cutaneous involvement was associated with serositis and hemolytic anemia. Coexisting dermatologic conditions, including treatment-related skin complications, were identified in 70% of patients. Cutaneous and mucosal manifestations in SLE constitute a complex, multicomponent disease phenotype reflecting both systemic inflammatory activity and processes of chronicity and damage accumulation. The high prevalence of overlapping cutaneous phenotypes and coexisting dermatologic conditions underscores the need for comprehensive skin assessment and a multidisciplinary approach to the management of patients with SLE. Цель. Проанализировать клиническое разнообразие кожных проявлений системной красной волчанки (СКВ) и их сочетание с сопутствующей дерматологической патологией. Материалы и методы. В одноцентровое одномоментное исследование включены 210 пациентов с СКВ, наблюдавшихся в ФГБНУ «НИИР им. В.А. Насоновой». Оценивали клинические, лабораторные и инструментальные показатели, активность заболевания (SLEDAI-2K [Systemic Lupus Erythematosus Disease Activity Index 2000] – индекс активности СКВ в модификации 2000 г., SLE-DAS [Systemic Lupus Erythematosus Disease Activity Score] – счет активности СКВ), органное повреждение (индекс повреждения Международной группы сотрудничающих клиник по системной красной волчанке / Американской коллегии ревматологов [Systemic Lupus International Collaborating Clinics / American College of Rheumatology – SLICC/ACR]), кожные проявления с использованием индексов CLASI (Cutaneous Lupus Disease Area and Severity Index – индекс площади и тяжести кожной волчанки), R-CLASI (Revised Cutaneous Lupus Erythematosus Disease Areas and Severity Index – модифицированный индекс площади и тяжести кожной волчанки) и кожно-слизистого домена Easy-BILAG (Easy British Isles Lupus Assessment Group – облегченная группа оценки волчанки на Британских островах). Дополнительно анализировали сопутствующие дерматологические заболевания и кожные изменения, не связанные напрямую с активностью СКВ. Результаты. Поражение кожи и слизистых оболочек выявлено у 85% пациентов за период заболевания, что являлось одним из частых проявлений дебюта СКВ. У 50% пациентов на момент включения обнаружена активная кожно-слизистая симптоматика. Кожные проявления характеризовались выраженной гетерогенностью и высокой частотой сочетанных фенотипов, включая острые и хронические формы кожной волчанки, поражение слизистых оболочек и нерубцовую алопецию. Активное кожное поражение ассоциировалось с серозитом и гемолитической анемией. У 70% пациентов выявлена сопутствующая дерматологическая патология, включая кожные осложнения терапии. Заключение. Кожные и слизистые проявления СКВ формируют сложный, многокомпонентный фенотип заболевания, отражающий как активность системного воспаления, так и процессы хронизации, накопления повреждения. Высокая частота сочетанных форм кожной волчанки и сопутствующей дерматологической патологии подчеркивает необходимость комплексной оценки кожного синдрома и междисциплинарного подхода к ведению таких пациентов.
Access to dermatologic care remains a persistent challenge in underserved communities, where workforce shortages, geographic barriers, and delayed referrals contribute to unmet medical and surgical needs. Mobile dermatology clinics represent a promising care-delivery model that brings specialty services directly to patients in these settings. Rather than replicating traditional clinic infrastructure, this editorial highlights the conceptual role of mobile dermatology clinics in improving access, reducing structural barriers, and supporting equitable delivery of dermatologic care. As health systems seek innovative strategies to address disparities, mobile clinics may serve as a flexible and scalable approach to expanding dermatologic services for underserved populations.
Understanding patient perspectives is essential to improving quality and satisfaction of care in dermatology clinics. In Saudi Arabia, limited national data exist on patients' educational needs and communication barriers. This study aimed to assess patient satisfaction, identify educational gaps, and explore communication challenges in dermatology clinics across Saudi Arabia. A national cross-sectional survey was conducted among 976 dermatology patients. A structured questionnaire evaluated demographics, perceived knowledge, satisfaction with information provided, communication barriers, and preferred educational methods. Descriptive statistics and chi-square tests were used for analysis. Among participants who had attended dermatology clinics (n = 795), 61.6% reported frequent or occasional confusion about their condition, and only 45.4% demonstrated high self-reported knowledge. Overall satisfaction was moderate, with 58.3% satisfied or very satisfied, while 9.9% reported dissatisfaction. The most reported communication barriers were limited consultation time (25.2%) and patient anxiety about asking questions (15.3%). Patients felt least informed about treatment options (22.6%), diagnosis (20.3%), and potential side effects (19.3%). Most participants (70.6%) preferred language communication to be in Arabic, and 78% favored face-to-face education consultation. Patient knowledge, barriers and preferences significantly differed with age, gender, and condition complexity (p < 0.05). Dermatology patients in Saudi Arabia report moderate satisfaction with substantial educational needs and communication barriers. Addressing consultation time constraints, fostering supportive communication environments, and providing patient-centered, language-appropriate education; particularly through face-to-face interactions will aid to enhance understanding, satisfaction, and engagement in for overall better provider-patient dermatologic care.
Patients who receive Janus kinase (JAK) inhibitors are at an increased risk of varicella zoster virus reactivation. The primary objective of this study was to evaluate the vaccination rates of recombinant zoster vaccine (RZV) for patients taking a JAK inhibitor for dermatologic or rheumatologic conditions. A facility-based cross-sectional study design was employed to select patients who were ≥18 years of age and were prescribed a JAK inhibitor for at least 6 months by a rheumatologist or dermatologist for any rheumatologic or dermatologic condition. Data analysis was undertaken using descriptive methods. There were 102 patients included in this study, with most patients being female (77.5%), ≥50 years of age (71.6%), White (77.5%) and with RA (76.5%). The proportion of patients who received at least one RZV (at any time in relation to JAK inhibitor initiation) was 27.5% (28/102). Only three patients received at least one dose of RZV within 30 days before or after initiation of a JAK inhibitor. Many patients receiving JAK inhibitors are not vaccinated with RZV, and of those who are vaccinated, the timing of vaccination rarely coincided with JAK inhibitor initiation and thus did not appear to be the motivation for vaccination. These data will be used to optimize vaccination workflow within ambulatory clinics to mitigate herpes zoster risk in this population.
The medical care of the pediatric population is disproportionately affected compared to adult medical care during periods of social and political unrest. No-show and late cancellation rates (NSLCR) were collected across pediatric and adult dermatology clinics in Minneapolis, Minnesota during recent periods of social unrest and the year prior. Pediatric dermatologic appointments, specifically those in metropolitan areas, were found to have a statistically significant increase (p < 0.001) in NSLCR compared to adult dermatology clinics.
In the context of the climate crisis, persons experiencing homelessness face a disproportionately increased risk of dermatologic disease. Contributing epidemiologic factors include increased baseline health susceptibilities, increased environmental exposures, and systemic barriers to climate resilience. Migrant populations, while distinct, can face overlapping challenges, with climate change acting as a housing crisis multiplier in both groups. Addressing these dermatologic impacts requires a coordinated approach from dermatologists globally.
Climate change is reshaping the epidemiology of dermatologic diseases in the Global South through rising temperatures, UV radiation, extreme weather events, and shifting ecosystems. These environmental stressors exacerbate thermal injuries, infectious and inflammatory dermatoses, and neglected tropical diseases such as cutaneous leishmaniasis, mycetoma, and scabies. Vulnerable populations-including displaced communities, persons with albinism, and outdoor workers-face disproportionate risk. This article highlights the dermatologic impacts of climate change, emphasizing the need for integrated surveillance, accessible care, and climate-resilient health systems. Addressing these challenges requires urgent, interdisciplinary action to protect skin health and equity in an increasingly warming and unstable world.
Some patients are referred unnecessarily from urgent care (UC) to dermatology, while others who need additional care are not referred or do not complete the referral, highlighting the need for improved triage of skin concerns at UC centers. To identify factors that predict UC referral to dermatology and to better understand UC perspectives on improving urgent access for skin concerns. This study includes a retrospective nominal logistic regression cohort analysis of 6988 skin-related UC encounters to identify predictors of referral to dermatology and a survey of UC perspectives on managing dermatologic conditions and improving dermatology access. Non-White patients and those evaluated at UC sites closer to dermatology had higher odds of referral. Uninsured patients and those requiring procedures or ongoing follow-up were also more likely to be referred. Dermatology education for UC providers, teledermatology, and urgent-access clinics were favored to improve dermatologic care access. Limitations include single-system design, unmeasured provider factors, limited disease severity assessment, and potential survey response bias. Several patient-related factors and UC proximity to dermatology influence UC referral to dermatology. Dermatology training for nondermatologists, teledermatology services to support UC, and dermatology-specific urgent-access clinics may improve patient triage and reduce unnecessary referrals.
Comprehensive multicenter data on the distribution and determinants of skin diseases in India remain limited. We aimed to characterize the burden of dermatological conditions and identify demographic, behavioral, and clinical predictors across four geographic regions. A retrospective, observational, multicentric, clinic-based, non-interventional study. About 6169 (including 422 children aged 1-16 years) Patients data were collected from 415 dermatologists databases attending dermatology clinics across the North, South, East, and West regions of India between June and September 2024. Data was collected using standardized case report forms. Skin diseases were classified into seven major categories: fungal, bacterial, viral, parasitic, autoimmune, inflammatory, and allergic; each defined using uniform diagnostic criteria. Logistic regression models identified independent predictors of each disease category. Fungal infections were the most common diagnosis (26.1%), followed by autoimmune (19.4%), inflammatory skin disease (18.4%) and allergic conditions (10.2%). Male sex was associated with higher odds of parasitic (aOR 1.84, 95% CI 1.39-2.45; p < 0.001), bacterial (aOR 1.43, 95% CI 1.15-1.79; p < 0.01), viral (aOR 1.35, 95% CI 1.10-1.67; p < 0.01), and fungal dermatoses (aOR 1.36, 95% CI 1.19-1.55; p < 0.001), and lower odds of inflammatory disease (aOR 0.69, 95% CI 0.60-0.80; p < 0.001). Low income was associated with increased odds of fungal (aOR 1.55, 95% CI 1.20-2.03; p < 0.001), bacterial (aOR 1.74, 95% CI 1.15-2.69; p < 0.05), and viral diseases (aOR 1.60, 95% CI 1.07-2.44; p < 0.05), and lower odds of autoimmune disease (aOR 0.69, 95% CI 0.52-0.92; p < 0.01). Regional differences were observed relative to the East region: inflammatory disease was less frequent in the North (aOR 0.56, 95% CI 0.42-0.76; p < 0.001), while viral disease was more frequent in North, South, and West regions (aORs approximately 2.0-2.7). Allergic disease was more common in the South (aOR 2.06, 95% CI 1.42-3.10; p < 0.001). Older age was modestly associated with autoimmune, allergic, bacterial, and viral disease, while children had a higher burden of parasitic infections. In this large clinic-based study of dermatology patients across India, fungal infections were the most frequent diagnosis and disease patterns varied by sex, income, age, and region. These findings highlight substantial sociodemographic and geographic differences among patients seeking dermatologic care and support the need for region-specific prevention and management strategies in clinical practice.
Inflammatory dermatopathology encompasses a wide array of nonneoplastic dermatologic conditions. This article will summarize the relevant clinical and histopathologic findings of rare and emerging inflammatory dermatologic diseases broadly categorized into postradiation morphea, reactive infectious dermatoses, vasculopathies and vasculitides, annular erythemas, and neutrophilic dermatoses.
Vitiligo substantially impairs health-related quality of life (HRQoL). However, mechanisms linking disease severity to HRQoL in low-resource and conflict-affected settings remain insufficiently understood. To assess whether psychological distress mediates the association between vitiligo severity and HRQoL among patients in Kandahar, Afghanistan. In this cross-sectional study, 402 adult patients with vitiligo were recruited from eight dermatology clinics between September 2024 and July 2025. Disease severity was measured using the Vitiligo Area Severity Index (VASI); psychological distress using the General Health Questionnaire-12 (GHQ-12); anxiety using the Hamilton Anxiety Rating Scale (HAM-A); depression using the 16-item Quick Inventory of Depressive Symptomatology (QIDS-SR16); and HRQoL using the Dermatology Life Quality Index (DLQI). Mediation analysis was performed using a regression-based framework, with indirect effects assessed by the Sobel test. Mean age of the patients was 30.4 ±10.5 years; 59.5% of them screened positive for psychological distress. Vitiligo severity showed a weak correlation with DLQI (r = 0.135, p = 0.007) and a moderate correlation with psychological distress (r = 0.496, p < 0.001). In multivariable models, psychological distress, anxiety severity, and depressive symptom severity were independently associated with poorer HRQoL. After adjustment for psychological distress, the association between vitiligo severity and HRQoL was no longer significant. The indirect effect was significant (Sobel Z = 7.94, p < 0.001). Psychological distress substantially mediates the relationship between vitiligo severity and HRQoL. Integrating routine psychological assessment into dermatologic care may improve patient outcomes in low-resource settings.
In honor of the new section on Forensic Dermatology that appears in Clinics in Dermatology, we present a modern-day detective story we created based on Sherlock Holmes, the famous fictional character created by Sir Arthur Conan Doyle (1859-1930). In our tale, a victim suspects that he is being slowly poisoned. An alteration of the victim's tongue (atrophic glossitis) and jaundice provide diagnostic forensic dermatologic clues. The serum toxicology is negative, and the police find no evidence of common poisons in the household. Sherlock Holmes, however, suspects foul play and must solve the crime to save the victim's life.
To improve patient-centered dermatology care by identifying how patients prefer to approach medical decision-making and structuring their visit, using a brief 4-question intake survey focused on cognitive style. New patients at 2 dermatology clinics within the California Skin Institute completed a multiple-choice intake questionnaire before their first visit. The survey asked patients how many concerns they wanted to address, how much guidance they preferred in selecting treatment, whether they prioritized diagnosis or treatment during the visit, and their expected timeline for results. Associations between patient responses and demographics (sex, age, chief complaint) were analyzed using χ2 tests. Among 257 patients (mean age: 38; 43% female), 96% of patients preferred to address only 1 or 2 concerns during their first visit; 75% preferred shared decision-making and 70% prioritized discussing treatment over their medical history. Patients bringing multiple concerns were significantly more likely to prefer autonomous decision-making (χ2=24.0; P<0.001). Women more often preferred to discuss multiple concerns and to balance history with treatment (both P<0.01), while men leaned toward single-concern, treatment-focused visits. Single-center design and moderate sample size may limit generalizability. This brief, previsit framework offers a structured method to align dermatologic care with patients' cognitive and decision-making preferences-enhancing efficiency, rapport, and mutual understanding prior to the clinical encounter. By facilitating clearer communication from the outset, it may improve the quality of patient-centered care. Future studies will explore whether tailoring consultation styles to patient preferences can impact adherence, satisfaction, and clinical outcomes.
Patient-performed teledermoscopy may improve access to dermatologic care, but evidence to guide dermatoscope selection for patient use is limited. To compare a lower-cost, ambient-light, nonpolarized dermatoscope with a higher-cost, illuminated, polarized dermatoscope for patient-performed teledermoscopy following treatment for early-stage melanoma. This randomized study within a trial was embedded within the MEL-SELF trial and recruited adults previously treated for early-stage melanoma (American Joint Committee on Cancer stages 0-II) in the patient-led surveillance arm of MEL-SELF from specialist and general practitioner-led skin cancer clinics in Australia from December 2021 to June 2024 with 12-month follow-up. Data were analyzed from February 6, 2025, to August 15, 2025. Participants were randomized (1:1) to receive a polarized (128 [51.0%]) or ambient-light (123 [49.0%]) dermatoscope smartphone attachment. Optional online training was provided. Participants submitted clinician-identified and self-detected lesion images via a secure teledermatology platform at 3-month intervals. The primary outcome was the proportion of participants submitting baseline images of sufficient quality for a teledermatologist to provide a management recommendation. Secondary outcomes included the proportion receiving a management recommendation for at least 1 image during the study period, per-image recommendation proportions, device costs, and qualitative assessments of image quality and usability. Of 251 participants (mean [SD] age, 56.0 [11.6] years; 147 female individuals [59%]), 175 (69.7%) received a teledermatologist management recommendation for baseline images (polarized: 92 [71.9%]; ambient light: 83 [67.5%]; difference, 4.4%; 95% CI, -7.0% to 15.8%). By 12 months, the proportion receiving at least 1 recommendation was similar between groups (polarized: 104 of 128 [81.3%]; ambient light: 94 of 123 [76.4%]; difference, 4.3%; 95% CI, -8.1% to 16.6%). However, a per-image analysis showed more polarized images (913 of 961 [95.0%]) than ambient-light images (706 of 775 [91.1%]) were reportable and supported a recommendation (difference, 3.9%; 95% CI, 1.5% to 6.3%; self-directed lesions: 6.8%; 95% CI, 3.3% to 10.2%). Teledermatologists provided more positive feedback for polarized images; blurriness (n = 14 vs 9) and poor lighting (n = 6 vs 0) were more frequent with ambient-light images. Patient usability ratings were similar (moderately/very easy: 39.8% vs 36.6%; difference, 3.2%; 95% CI, -8.8% to 15.3%), but ambient-light dermatoscope users reported more image quality issues. The polarized device was more expensive ($324.16 vs $35.40). The results of this study within a trial indicate that both devices enabled patients to perform dermoscopy and receive teledermatology recommendations. The modest image quality advantages of the polarized device must be weighed against its substantially higher cost. anzctr.org.au Identifier: ACTRN12621000176864.
Objective: Evaluate quality of life (QoL) of patients with malignant wounds at baseline and through the course of management at a dedicated malignant wound care clinic. Methods: Retrospective review of patients with malignant wounds seen at a dedicated wound care clinic between January 2016 and April 2023 who completed the Skindex-16, a validated dermatologic QoL questionnaire. Clinical symptoms and management data were extracted from electronic medical records. Results: At baseline, patients reported high Skindex-16 scores across symptoms (mean = 64.2, standard deviation [SD] = 33.3), emotions (mean = 44.8, SD = 31.2), and functioning (mean = 67.7, SD = 29.7) domains. Overall Skindex-16 scores significantly improved over time, with a mean reduction of 4.9 points per visit (p = 0.002). Multimodal symptom management, including both topical and systemic treatments, and modern dressings were commonly utilized. Clinical Implications: Early referral to specialized wound care allows timely initiation of symptom-directed interventions to reduce pain, bleeding, odor, and infection risk. QoL improvements are often seen after the first follow-up visit, with the greatest benefit between the first and second visits. Access to structured wound care not only alleviates symptom burden but also supports continuation of oncologic treatment. Innovation: This study is the first to longitudinally assess malignant wound-related quality using a dermatology-specific instrument, the Skindex-16, in a real-world clinical setting. These findings highlight a model for integrating dermatologic wound care into supportive oncology and demonstrate that malignant wounds, often regarded as irreversible, can be meaningfully palliated with dedicated care. Conclusion: Dedicated wound care was associated with statistically significant improvements in QoL for patients with malignant wounds. Early referral to specialized wound clinics may enhance palliative care for these patients.
Background/Objectives: Reports detailing rehabilitative interventions for infants with severe dermatologic disorders are scarce. Epidermolysis Bullosa (EB) is a genetic disorder characterized by skin fragility, which causes blistering after minor trauma. Since there is still no cure in general clinics, symptomatic treatment and developmental support are essential for managing the condition. While physiotherapy and occupational therapy guidelines for EB exist, descriptions of neonatal habilitation/rehabilitation are insufficient. Case: This case report describes the longitudinal habilitation/rehabilitation intervention process for a newborn with Dowling-Meara EB, the most severe form, from admission to the Neonatal Intensive Care Unit (NICU) until discharge. Since maneuvers requiring contact were strictly limited due to skin vulnerability, rehabilitation interventions were implemented utilizing the opportunity afforded by necessary care. Intervention strategies were modified according to developmental stages and skin stability, with a particular emphasis on sensory development, postural control training, and fostering the mother-child relationship. This report is the first to describe the applicability of sensory rehabilitation and the use of behavioral cues to facilitate voluntary movements. In addition, careful respiratory rehabilitation was implemented for comorbid tracheomalacia with specific attention to skin vulnerability. The child achieved stable head/neck control, symmetrical limb movements, reaching, guided rolling, and stable oxygenation by the time of discharge. Conclusions: Balancing skin disorder prevention and motor-neural development requires flexible approaches that minimize contact while utilizing routine care as a training opportunity. Our experience will contribute to the progress in the habilitation, wound rehabilitation and respiratory rehabilitation of infants with severe dermatologic disorders.
BACKGROUND: Neurofibromatosis type 1 is a multisystem genetic disorder that most commonly presents with dermatologic manifestations, while also involving the central and peripheral nervous systems. Additional features may include orthopedic, ophthalmologic, and cardiovascular abnormalities, and the condition is further associated with an increased risk of malignancy. Typically, patients receive multidisciplinary care in the setting of a large tertiary-care academic institution within the pediatric department. Here, we describe the development of an adult program housed within a National Cancer Institute-designated comprehensive cancer center and outline our care framework. METHODS: We describe the establishment an adult neurofibromatosis clinic at Roswell Park Comprehensive Cancer Center (Buffalo, NY, USA), including considerations of specialty involvement and expertise, cancer screening and surveillance practices, and clinic workflow. Prospective data were collected and analyzed for the first 100 patients enrolled (2021–2024), including information about their neurofibromatosis-related conditions and cancer history. RESULTS: Neurofibromatosis-related clinical features in this cohort were consistent with those reported in larger published studies. However, the prevalence of neurofibromatosis type 1-associated malignancy was higher, with 37 diagnoses among 100 patients. This likely reflects the cancer-focused institutional setting of the clinic. CONCLUSIONS: Multidisciplinary neurofibromatosis clinics are essential to address the complex needs of adults with neurofibromatosis type 1. Our experience suggests that a comprehensive cancer center provides an optimal setting; it offers relevant clinical expertise and seamless transition from surveillance to active oncology care for patients who develop malignancy, the most common life-threatening complication in the adult population. We present this model to encourage the development of similar programs and to advance adult neurofibromatosis care with the ultimate goal of improving outcomes and quality of life in this patient population.
Haploinsufficiency of A20 (HA20) is an immune dysregulation disorder caused by loss-of-function TNFAIP3 mutations. This international multicenter study aimed to delineate its clinical spectrum, genetic basis, and natural history. A cross-sectional retrospective analysis was conducted in HA20 patients with pathogenic or likely pathogenic TNFAIP3 variants. Clinical, laboratory, and treatment data were assessed. Clustering analysis was applied to evaluate clinical features and disease phenotypes. Patients were stratified by age (<16 years vs ≥16 years), country of origin (China vs United States), and sex. A total of 185 patients from 41 clinics across 7 countries were included (median age at onset, 3.3 years). Common clinical features were mucocutaneous involvement (80.5%), recurrent fever (63.3%), gastrointestinal symptoms (58.6%), cytopenia (56.6%), arthritis/arthralgia (46.7%), and recurrent infections (35.5%). Compared with adults and patients from the US cohort, intestinal ulcers were significantly more frequent in children and patients from the Chinese cohort (P = .002 and P < .0001, respectively), whereas uveitis was less common in these groups (P = .001 and P < .0001, respectively). Hierarchical clustering of clinical disease phenotypes based on Pearson distance identified two major clusters, an autoinflammation-predominant phenotype and an autoimmune-predominant phenotype. The autoinflammation-predominant phenotype was more common in children and patients from the Chinese cohort (P = .033 and .003, respectively). A total of 89 pathogenic TNFAIP3 mutations were identified, including 46 novel variants. Large deletions were associated with neurologic disease and developmental delay (P = .0054 and .0245, respectively); however, there were no clear associations between disruptions of specific functional A20 domains and age at onset or phenotype. Therapeutically, TNF and IL-1 inhibitors were effective in most patients, with thalidomide and JAK inhibitors provided in refractory cases; 51.5% had obtained minimal disease activity at most recent follow-up. HA20 is a common dominantly inherited immune dysregulation disorder with phenotypic heterogeneity and potential age-dependent evolution. This large international cohort highlights diagnostic and therapeutic strategies to advance evaluation and management of HA20.
Background/Objectives: Palmoplantar psoriasis (PP) is a challenging variant of psoriasis that affects high-impact areas such as palms and soles and significantly impairs quality of life despite often limited body surface involvement. Conventional topical and systemic therapies may be insufficient, and evidence on biologic treatments for this specific phenotype remains limited. Bimekizumab (BKZ), a monoclonal antibody targeting IL-17A and IL-17F, has shown high efficacy in plaque psoriasis. This study aimed to evaluate the real-world effectiveness and rapidity of action of BKZ in patients with palmoplantar psoriasis compared with patients with psoriasis vulgaris (PV). Methods: We conducted a multicenter retrospective cohort study using data from 22 Italian dermatological units within the IL-PSO (Italian Landscape-Psoriasis) database. Adult patients treated with BKZ between November 2022 and October 2024 were included and categorized into three groups: isolated PP, PP associated with PV (PP + PV), and PV without palmoplantar involvement. Clinical outcomes included the Psoriasis Area and Severity Index (PASI), Dermatology Life Quality Index (DLQI), and pruritus Visual Analogue Scale (VAS). Outcomes were assessed at baseline, week 4, and week 16. Results: A total of 47 patients were included. The baseline PASI was lower in the PP group compared with the PP + PV and PV groups, whereas the DLQI was highest in patients with isolated PP. Rapid clinical improvement was observed in all groups. The mean % PASI reduction at week 4 was 60.5%, 65.1%, and 77.0% in the PP, PP + PV, and PV groups, respectively, increasing to 94.8%, 90.4%, and 91.8% at week 16. The proportion of patients achieving complete clearance (PASI = 0) at week 16 was 73.3% (11/15), 68.2% (15/22), and 70.0% (7/10), respectively. Significant improvements were also observed in DLQI and pruritus scores over time. No significant safety concerns emerged. Conclusions: In this real-world multicenter cohort, bimekizumab demonstrated rapid and high efficacy in patients with palmoplantar psoriasis, both isolated and associated with psoriasis vulgaris. These findings support the use of BKZ as an effective therapeutic option for psoriasis involving high-impact areas, as the palmoplantar, although larger studies are needed to confirm these results.