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Objective: The aim of this study was to characterize the phenotype and genotype of patients with Yao syndrome (YAOS), with focus on comparing to prior cohorts, identifying novel features, and describing treatment observations. Methods: A retrospective medical records review of patients with YAOS seen at Mayo Clinic was conducted to characterize clinical features, NOD2 genotypes, and therapeutic trials and responses. Results: Twenty-two patients diagnosed with YAOS were included. Eighteen patients (81.8%) were female and twenty (90.9%) were White. Mean age at symptom onset was 24.0 ± 14.8 years. Common clinical manifestations included fever (81.8% of patients), rash (95.5%), chronic gastrointestinal symptoms (100%), arthralgia/arthritis (95.5%), and sicca symptoms (68.2%). NOD2 genotypes as single variants included IVS8 + 158 in 14 patients (63.6%), R702W in 8 patients (36.4%), 1007fs in 4 (18.2%), and one patient had only a previously unreported rare variant. Eight patients (36.4%) had compound (two or more) NOD2 variants. Potential comorbidities of YAOS observed in this cohort included gastrointestinal dysmotility, autonomic dysfunction, and mast cell activation-like symptoms. Glucocorticoid responsiveness was observed in 15 of 20 patients exposed (75%). Eleven patients (50.0%) received IL-1 inhibitor therapy, and one patient (4.5%) received IL-6 inhibitor therapy with adequate disease control. Conclusion: Our findings substantiate the occurrence of fevers, arthralgia/ arthritis, rash, chronic gastrointestinal symptoms, and sicca-like symptoms described previously in patients with YAOS. Novel clinical features and one NOD2 variant not previously described were identified. Glucocorticoids, biologic IL-1 inhibitors, and IL-6 receptor inhibitors appeared to be effective for treatment of patients with YAOS. [ABSTRACT FROM AUTHOR]

Background Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease with a considerable disease burden. Existing treatment options are limited and often suboptimal; a high unmet need exists for effective targeted therapies. Objectives To explore the effects of spesolimab treatment in patients with HS. Methods This randomized double-blind placebo-controlled proof-of-clinical-concept (PoCC) study was conducted at 25 centres across 12 countries from 3 May 2021 to 21 April 2022. Patients had moderate-to-severe HS for ≥ 1 year before enrolment. Patients were randomized (2 : 1) to receive a loading dose of 3600-mg intravenous spesolimab (1200 mg at weeks 0, 1 and 2) or matching placebo, followed by maintenance with either 1200-mg subcutaneous spesolimab every 2 weeks from weeks 4 to 10 or matching placebo. The primary endpoint was the percentage change from baseline in total abscess and inflammatory nodule (AN) count at week 12. Secondary endpoints were the absolute change from baseline in the International Hidradenitis Suppurativa Severity Score System (IHS4), percentage change from baseline in draining tunnel (dT) count, the proportion of patients achieving a dT count of 0, absolute change from baseline in the revised Hidradenitis Suppurativa Area and Severity Index (HASI-R), the proportion of patients achieving Hidradenitis Suppurativa Clinical Response (HiSCR50), the proportion of patients with ≥ 1 flare (all at week 12) and patient-reported outcomes. Results In this completed trial, randomized patients (n = 52) received spesolimab (n = 35) or placebo (n = 17). The difference vs. placebo in least squares mean is reported. At week 12, the percentage change in total AN count was similar between treatment arms: –4.1% [95% confidence interval (CI) –31.7 to 23.4]. There was greater numerical improvement in the spesolimab arm, as measured by IHS4 (13.9, 95% CI –25.6 to –2.3); percentage change from baseline in dT count (–96.6%, 95% CI –154.5 to –38.8); and the proportion of patients achieving a dT count of 0 (18.3%, 95% CI –7.9 to 37.5). Spesolimab treatment also improved HASI-R and HiSCR50 vs. placebo. Spesolimab demonstrated a favourable safety profile, similar to that observed in trials in other diseases. Conclusions This exploratory PoCC study supports the development of spesolimab as a new therapeutic option in HS. [ABSTRACT FROM AUTHOR]

The use of cannabis and cannabis-related products among patients with hidradenitis suppurativa (HS) is increasing globally. Given the potential anti-inflammatory, therapeutic, and pain management benefits of cannabis-related products, we reviewed primary literature to evaluate the prevalence and possible purpose for cannabis use among patients with HS and to provide recommendations to patients and physicians. A narrative review of original studies was conducted using Embase and Ovid Medline databases. The search strategy was confirmed by a librarian and conducted on September 1, 2023, using a detailed list of subject headings and keywords tailored to cannabis, cannabis-related products, HS, and both adult and pediatric populations. Among 43 identified studies, 6 met the eligibility criteria and encompassed 34,435 patients. Patients were mostly female, and studies were conducted across the United States, Canada, and France. Findings show higher cannabis use among HS patients, demonstrating efficacy in pain management, sleep, anxiety relief, itch relief, and improved quality of life. Cannabis may play a role in analgesia, improved quality of life, pain, itch, and overall mental health in patients with HS and healthcare providers including dermatologists should increase their familiarity in appropriate use of cannabis-related products. [ABSTRACT FROM AUTHOR]

Inpatient hospitalization of individuals with hidradenitis suppurativa (HS) has increased. Inpatient services may not be familiar enough with this disease to understand how to manage severe HS and/or HS flares. It would be beneficial to the inpatient medical community to establish consensus recommendations on holistic inpatient care of patients with HS. A survey study was developed and distributed by Wake Forest University School of Medicine (Winston-Salem, North Carolina). A total of 26 dermatologists participated in the Delphi process, and the process was conducted in 2 rounds. Participants voted on proposal statements using a 9-point scale (1=very inappropriate; 9=very appropriate). Statements were developed using current published guidelines for management of HS and supportive care guidelines for other severe inpatient dermatologic diseases. A total of 50 statements were reviewed and voted on between the 2 rounds. Consensus was determined using the RAND/UCLA Appropriateness Method. Twenty-six dermatologists completed the first-round survey, and 24 completed the second-round survey. The 40 consensus recommendations generated through these surveys can serve as a resource for providers caring for inpatients with HS. [ABSTRACT FROM AUTHOR]

Background: Hidradenitis suppurativa (HS) is a chronic debilitating folliculopilosebaceous disease that affects the skin most commonly in the axilla, groin, inframammary, genital and buttock areas. Surgical intervention may be an appropriate option in selected cases, but there is a risk of recurrence. The purpose of this study was to assess the results of wide local excision (WLE) to healthy subcutaneous fat with secondary intention healing in patients with HS who were under concurrent surgical and dermatologic care. Methods: We conducted a retrospective review of 192 consecutive HS consultations to a general surgical service, identifying patients treated with WLE. Cases involving minor procedures (deroofng, incision and drainage) were excluded. Data on patient demographics, surgical site, method of closure, complications and recurrence were extracted from patient charts. We also conducted a literature review of surgical procedures in the management of HS. Results: A total of 66 patients underwent 133 WLE to healthy subcutaneous fat. All patients were under concurrent medical care directed by a dermatologist. No medical therapies, including biological treatments, were interrupted or withheld for surgery. One hundred procedures were closed primarily with rotation or advancement faps and 33 by secondary intention healing. Local recurrence occurred in 18% of primary closures and 18% of secondary intention closures (p = 0.98, [chi square] test, no difference between groups). One patient with secondary intention healing returned to the emergency department for bleeding; 34% of patients with primary closure experienced some dehiscence (23% major, 11% minor separation). Two patients with axillary disease had restrictions in their ability to raise their arm that required physiotherapy. Median follow-up was 14.5 (range 1-55) months. Conclusion: Resection to healthy subcutaneous fat during WLE provides disease control comparable to that with deeper resections, simplifying care. Contexte : L'hidradenite suppuree (HS) est une maladie invalidante chronique du follicule pilo-sebace qui affecte la peau principalement au niveau de l'aisselle, de l'aine, du pli sous-mammaire et du siege. Une intervention chirurgicale pourrait etre une option appropriee dans certains cas, mais il y a un risque de recurrence. Le but de cette etude etait d'evaluer les resultats d'une excision locale large (ELL) jusqu'aux tissus adipeux sous-cutanes sains suivie de cicatrisation secondaire chez des patients atteints d'HS recevant concomitamment des soins chirurgicaux et dermatologiques. Methodes : Nous avons procede a une revue retrospective de 192 consultations consecutives pour HS dans un service de chirurgie generale et nous avons recense les patients traites par ELL. Les cas impliquant des interventions mineures (par incisiondrainage) ont ete exclus. Les donnees demographiques, le site chirurgical, la methode de suture, les complications et les recurrences ont ete enregistres a partir des dossiers des patients. Nous avons aussi procede a une revue de la litterature sur les interventions chirurgicales pour l'HS. Resultats : En tout, 66 patients ont subi 133 interventions d'ELL jusqu'aux tissus adipeux sous-cutanes sains. Tous les patients prenaient concomitamment un traitement medicamenteux sous la supervision d'un dermatologue. Aucun des traitements medicamenteux, y compris les agents biologiques, n'a ete suspendu ou interrompu pour la chirurgie. Cent interventions ont ete refermees principalement par lambeaux de rotation ou d'avancement et 33 par cicatrisation secondaire. Les recurrences locales ont affecte 18 % des fermetures primaires et 18 % des fermetures par cicatrisation secondaire (p = 0,98, test du [chi square], aucune difference entre les groupes). Un patient soumis a la cicatrisation secondaire est retourne aux urgences pour un saignement; 34 % des patients ayant subi une fermeture primaire ont presente un certain degre de dehiscence (23 % majeure, 11 % mineure). Deux patients ayant une atteinte axillaire ont connu des restrictions dans leur capacite de lever les bras et ont du faire de la physiotherapie. Le suivi median a ete de 14,5 (eventail de 1 a 55) mois. Conclusion : La resection jusqu'aux tissus adipeux sous-cutanes sains durant l'ELL permet de maitriser la maladie aussi bien que les resections plus profondes, mais simplife les soins., Hidradenitis suppurativa (HS) is a chronic disease affecting the folliculopilosebaceous unit. (1) The disease was roughly divided into 3 surgical stages by Hurley, but newer staging systems have been described [...]

Introduction: Data concerning the global burden of hidradenitis suppurativa (HS) are limited. Reported prevalence estimates vary between 0.0003% and 4.1%, and data from various geographical regions are still to be collected. Previously reported prevalences have been limited by the methodological approach and source of data. This has resulted in great heterogeneity as prevalence data from physician-diagnosed cases poorly match those of self-reported apparent HS disease. Methods: The Global Hidradenitis Suppurativa Atlas (GHiSA) introduces an innovative approach to determine the global prevalence of HS. This approach involves using a previously validated questionnaire to screen apparently healthy adults accompanying a patient to a non-dermatological outpatient clinic visit in a hospital or a private/family medicine clinic. The screening questionnaire (i.e., the index test) is combined with a subsequent physician-based in-person validation (i.e., the reference standard) of the participants who screen positive. Approximately ten percent of the screen-negative participants are also clinically assessed to verify the diagnostic precision of the test. The local prevalence (pi) will be estimated from each country that submits the number of patients who are HS positive according to the index test and clinical examination (n), and the corresponding total number of observations (N). Conclusion: The GHiSA Global Prevalence studies are currently running simultaneously in 58 countries across six continents (Africa, Europe, Australia, North America, South America, and Asia). The goal of the combined global proportion is the generation of a single summary (i.e., proportional meta-analysis), which will be done after a logit transformation and synthesized using a random-effects model. The novel standardization of the Global Prevalence Studies conducted through GHiSA enables direct international comparisons, which were previously not possible due to substantial heterogeneity in past HS prevalence studies. [ABSTRACT FROM AUTHOR]