RARE DISEASE
Autoinflammatory syndrome with acne and/or hidradenitis suppurativa
Autoinflammatory syndrome with acne and/or hidradenitis suppurativa
Autoinflammatory syndrome with acne and/or hidradenitis suppurativa
Drug discovery
0
drugs
With orphan designations
Overview
Autoinflammatory Syndromes with Acne/Hidradenitis Suppurativa (HS) are rare disorders characterized by dysregulated innate immunity, manifesting as chronic neutrophilic inflammation. Key features include recurrent HS (painful nodules, abscesses, scarring), acne, and pyoderma gangrenosum, often forming syndromes like PASH (pyoderma gangrenosum, acne, HS) or PAPASH (adding pyogenic arthritis). These conditions are linked to IL-1β pathway overactivation and polygenic factors, with symptoms persisting for decades without targeted treatment [3][6][9].
Burden
Chronic pain, disfiguring scars, and recurrent infections lead to impaired quality of life, with 40–60% reporting depression/anxiety [9][12][19].
Diagnostic delays average 4–6 years, increasing risks of amyloidosis, arthritis, and secondary infections [1][6][17].
High healthcare utilization due to frequent flares and multidisciplinary care needs [3][6][12].
Therapies
Biologics: IL-1 inhibitors (anakinra, canakinumab), TNF-α blockers (adalimumab, infliximab), and IL-17 antagonists (secukinumab) for moderate-severe cases [6][9][18].
Immunosuppressants: Colchicine, corticosteroids, or JAK inhibitors as adjuncts [3][6].
Surgical interventions: Incision/drainage or laser therapy for refractory HS lesions [9][12].
Categories: rare skin diseases, rare systemic and rheumatological diseases
Research Papers
1,300 drug discovery papers about Autoinflammatory syndrome with acne and/or hidradenitis suppurativa, with 2 first-in-class emerging drug candidates forecasted to outperform the average preclinical success rate. Recent publications:
1,300 drug discovery papers about Autoinflammatory syndrome with acne and/or hidradenitis suppurativa, with 2 first-in-class emerging drug candidates forecasted to outperform the average preclinical success rate. Recent publications:
2026-08-13 | The Metabolic Revolution in Dermatology: Obesity, Insulin Resistance, and Ultra-Processed Diets as Drivers of Skin Inflammation.
Inflammatory dermatoses are increasingly linked to systemic metabolic factors. Obesity and insulin resistance create a pro-inflammatory milieu that affects the skin. Adipose tissue functions as an endocrine organ secreting adipokines and cytokines that drive chronic inflammation with notable skewing toward T-helper 1 (Th1)/Th17 signaling. Hyperinsulinemia, elevated insulin-like growth factor-1 promote keratinocyte proliferation, sebum production, and autoinflammation, contributing to a multitude of skin diseases including hidradenitis suppurativa, acne, psoriasis, atopic dermatitis (AD), acanthosis nigricans, hirsutism, scarring alopecias, intertrigo, and chronic idiopathic urticaria. Concomitantly, ultra-processed diets low in fiber and high in additives detrimentally affect the gut-skin axis. Diets rich in emulsifiers, sugars, and fructose alter the gut microbiome and increase intestinal permeability, leading to metabolic endotoxemia and increased systemic inflammation. High-fructose corn syrup in sweetened beverages is metabolized via hepatic fructokinase, promoting de novo lipogenesis and excess uric acid, a cascade implicated in metabolic fatty liver disease and heightened inflammation. These dietary factors have been correlated with aggravated skin diseases, where fast-food intake (≥3× weekly) is associated with increased risk of severe AD in children. Emerging evidence suggests that dietary modifications may help mitigate skin inflammation in select patients. At the same time, the advent of glucose-dependent insulinotropic polypeptide and glucagon-like peptide-1 receptor agonists may improve metabolic parameters and could represent promising adjunctive therapies in select inflammatory dermatoses. Dermatologists can serve as sentinels, identifying cutaneous signs of insulin resistance (eg, acanthosis nigricans, acrochordons, and other skin diseases driven by insulin resistance) and addressing lifestyle factors as part of routine care.
2026-08-13 | Real-World Experience with Janus Kinase Inhibitors in Severe Refractory Hidradenitis Suppurativa: A Retrospective Case Series.
Hidradenitis suppurativa (HS) is a chronic inflammatory disease with limited treatment options for patients with severe, treatment-refractory disease. The JAK-STAT pathway represents a potential therapeutic target, although real-world evidence for JAK inhibitors (JAKi) in HS remains limited. This retrospective case series describes eight male patients with Hurley stage III HS who received tofacitinib (n=3), upadacitinib (n=4), or ivarmacitinib (n=1) after inadequate response to conventional therapies. Clinical outcomes were assessed using the International Hidradenitis Suppurativa Severity Score System (IHS4) and a numerical rating scale (NRS) for pain at the latest available follow-up. Follow-up ranged from 1 week to 12 months. Seven patients showed improvement in inflammatory lesions and/or pain, whereas one patient receiving tofacitinib showed limited clinical benefit. The median reduction in IHS4 score was 9.5 points (range, 2-18), and the median reduction in NRS pain score was 4.0 points (range, 0-5). Temporary interruption of upadacitinib in one patient was followed by disease flare, with improvement again observed after treatment re-initiation. No severe infections, thromboembolic events, HBV reactivation, or treatment-limiting adverse events were identified during the available follow-up. These preliminary observations suggest that JAKi may have a potential role in selected patients with severe, treatment-refractory HS. However, responses and follow-up durations were heterogeneous, and the small sample size precludes comparisons between agents. Prospective controlled studies with standardized assessment timepoints and longer follow-up are needed to clarify efficacy, durability, and long-term safety.
2026-08-13 | Successful treatment of hidradenitis suppurativa with vunakizumab: a case report and literature review.
Hidradenitis suppurativa (HS) is a chronic, recurrent, and disabling inflammatory skin disorder. To our knowledge, this study reports the first use of vunakizumab, a domestically developed anti-IL-17A monoclonal antibody, for the treatment of HS. We present the case of a 17-year-old boy with a 5-year history of recurrent painful nodules and abscesses on the buttocks who had been repeatedly misdiagnosed with common acute bacterial infections and had responded poorly to conventional antibiotics. After 8 weeks of treatment with vunakizumab, which offered a pharmacoeconomic advantage during the transition period before its inclusion in China's national insurance system, the patient showed marked improvement, with complete resolution of nodules, abscesses, and tunnels and no recurrence or significant adverse events during 10 months of follow-up. This case highlights the potential of vunakizumab in the treatment of HS and supports the pathogenic role of IL-17 in the disease.
2026-08-13 | Autoinflammatory Syndromes of Hidradenitis Suppurativa: Updates in Clinical Features, Emerging Associations, and Management.
To summarize and critically evaluate recent literature on autoinflammatory syndromes of hidradenitis suppurativa (HS). HS-associated autoinflammatory syndromes traditionally encompass pyoderma gangrenosum (PG), acne, and HS (PASH); pyogenic arthritis, PG, acne, and HS (PAPASH); psoriatic arthritis, PG acne, and HS (PsAPASH); and PG, acne, HS and ankylosing spondylitis (PASS). However, this spectrum continues to expand, with recent literature considering the inclusion of additional autoinflammatory diseases such as HS associated with SAPHO, including synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO); and Hyperimmunoglobulin D Syndrome (HIDS). HS-associated autoinflammatory syndromes are thought to be driven by dysregulation of the innate immune system and the subsequent overexpression of key inflammatory cytokines such as IL-1, and targeted IL-1 therapies have demonstrated particularly brisk and efficacious response. Multiple genes related to follicular keratinization or inflammatory regulation have been implicated, and sequencing methods such as whole-exome sequencing and variant enrichment analysis continue to identify novel genetic variants and are being used to further elucidate genotype-phenotype correlations. HS-associated autoinflammatory syndromes are an evolving spectrum of rare, severe, diseases in which HS coexists with other autoinflammatory conditions, most commonly PASH and related syndromes. They are driven by innate immune dysregulation and pathogenic genetic variants, with whole-exome sequencing aiding diagnosis and genotype-phenotype correlation. Management is often challenging and highly individualized, with targeted biologic therapies such as IL-1 inhibitors showing the most consistent and rapid clinical benefit.
2026-08-12 | Surgical Outcomes for Hidradenitis Suppurativa: Does Biologic Therapy Make a Difference?
Hidradenitis suppurativa (HS) is a chronic inflammatory skin condition that often requires both medical and surgical management. Biologic therapies are increasingly used for moderate-to-severe disease, but their effect on surgical outcomes remains unclear. The aim of this study was to evaluate the impact of biologic therapy on postoperative outcomes in patients undergoing excisional surgery for HS. The authors conducted a retrospective chart review of adult patients who underwent excisional surgery for HS at a single academic center with at least 6 months of postoperative follow-up. Demographic data, comorbidities, disease severity, biologic use at the time of surgery (adalimumab or infliximab), and surgical outcomes were collected. Statistical analyses compared postoperative outcomes between biologic and nonbiologic groups with false discovery rate correction for multiple testing. Seventy-seven patients undergoing 109 excisions were included, of which 27 (24.8%) occurred while on biologics. All biologic patients had Hurley Stage III disease and greater surgical burden, with more anatomic sites undergoing excision. Healing time, complication rates, recurrence, and need for revision surgery did not significantly differ between groups. Biologic therapy did not impair postoperative healing or increase complications, supporting the safety of combining biologics with surgery for HS.
2026-08-13 | The Metabolic Revolution in Dermatology: Obesity, Insulin Resistance, and Ultra-Processed Diets as Drivers of Skin Inflammation.
Inflammatory dermatoses are increasingly linked to systemic metabolic factors. Obesity and insulin resistance create a pro-inflammatory milieu that affects the skin. Adipose tissue functions as an endocrine organ secreting adipokines and cytokines that drive chronic inflammation with notable skewing toward T-helper 1 (Th1)/Th17 signaling. Hyperinsulinemia, elevated insulin-like growth factor-1 promote keratinocyte proliferation, sebum production, and autoinflammation, contributing to a multitude of skin diseases including hidradenitis suppurativa, acne, psoriasis, atopic dermatitis (AD), acanthosis nigricans, hirsutism, scarring alopecias, intertrigo, and chronic idiopathic urticaria. Concomitantly, ultra-processed diets low in fiber and high in additives detrimentally affect the gut-skin axis. Diets rich in emulsifiers, sugars, and fructose alter the gut microbiome and increase intestinal permeability, leading to metabolic endotoxemia and increased systemic inflammation. High-fructose corn syrup in sweetened beverages is metabolized via hepatic fructokinase, promoting de novo lipogenesis and excess uric acid, a cascade implicated in metabolic fatty liver disease and heightened inflammation. These dietary factors have been correlated with aggravated skin diseases, where fast-food intake (≥3× weekly) is associated with increased risk of severe AD in children. Emerging evidence suggests that dietary modifications may help mitigate skin inflammation in select patients. At the same time, the advent of glucose-dependent insulinotropic polypeptide and glucagon-like peptide-1 receptor agonists may improve metabolic parameters and could represent promising adjunctive therapies in select inflammatory dermatoses. Dermatologists can serve as sentinels, identifying cutaneous signs of insulin resistance (eg, acanthosis nigricans, acrochordons, and other skin diseases driven by insulin resistance) and addressing lifestyle factors as part of routine care.
2026-08-13 | Real-World Experience with Janus Kinase Inhibitors in Severe Refractory Hidradenitis Suppurativa: A Retrospective Case Series.
Hidradenitis suppurativa (HS) is a chronic inflammatory disease with limited treatment options for patients with severe, treatment-refractory disease. The JAK-STAT pathway represents a potential therapeutic target, although real-world evidence for JAK inhibitors (JAKi) in HS remains limited. This retrospective case series describes eight male patients with Hurley stage III HS who received tofacitinib (n=3), upadacitinib (n=4), or ivarmacitinib (n=1) after inadequate response to conventional therapies. Clinical outcomes were assessed using the International Hidradenitis Suppurativa Severity Score System (IHS4) and a numerical rating scale (NRS) for pain at the latest available follow-up. Follow-up ranged from 1 week to 12 months. Seven patients showed improvement in inflammatory lesions and/or pain, whereas one patient receiving tofacitinib showed limited clinical benefit. The median reduction in IHS4 score was 9.5 points (range, 2-18), and the median reduction in NRS pain score was 4.0 points (range, 0-5). Temporary interruption of upadacitinib in one patient was followed by disease flare, with improvement again observed after treatment re-initiation. No severe infections, thromboembolic events, HBV reactivation, or treatment-limiting adverse events were identified during the available follow-up. These preliminary observations suggest that JAKi may have a potential role in selected patients with severe, treatment-refractory HS. However, responses and follow-up durations were heterogeneous, and the small sample size precludes comparisons between agents. Prospective controlled studies with standardized assessment timepoints and longer follow-up are needed to clarify efficacy, durability, and long-term safety.
2026-08-13 | Successful treatment of hidradenitis suppurativa with vunakizumab: a case report and literature review.
Hidradenitis suppurativa (HS) is a chronic, recurrent, and disabling inflammatory skin disorder. To our knowledge, this study reports the first use of vunakizumab, a domestically developed anti-IL-17A monoclonal antibody, for the treatment of HS. We present the case of a 17-year-old boy with a 5-year history of recurrent painful nodules and abscesses on the buttocks who had been repeatedly misdiagnosed with common acute bacterial infections and had responded poorly to conventional antibiotics. After 8 weeks of treatment with vunakizumab, which offered a pharmacoeconomic advantage during the transition period before its inclusion in China's national insurance system, the patient showed marked improvement, with complete resolution of nodules, abscesses, and tunnels and no recurrence or significant adverse events during 10 months of follow-up. This case highlights the potential of vunakizumab in the treatment of HS and supports the pathogenic role of IL-17 in the disease.
2026-08-13 | Autoinflammatory Syndromes of Hidradenitis Suppurativa: Updates in Clinical Features, Emerging Associations, and Management.
To summarize and critically evaluate recent literature on autoinflammatory syndromes of hidradenitis suppurativa (HS). HS-associated autoinflammatory syndromes traditionally encompass pyoderma gangrenosum (PG), acne, and HS (PASH); pyogenic arthritis, PG, acne, and HS (PAPASH); psoriatic arthritis, PG acne, and HS (PsAPASH); and PG, acne, HS and ankylosing spondylitis (PASS). However, this spectrum continues to expand, with recent literature considering the inclusion of additional autoinflammatory diseases such as HS associated with SAPHO, including synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO); and Hyperimmunoglobulin D Syndrome (HIDS). HS-associated autoinflammatory syndromes are thought to be driven by dysregulation of the innate immune system and the subsequent overexpression of key inflammatory cytokines such as IL-1, and targeted IL-1 therapies have demonstrated particularly brisk and efficacious response. Multiple genes related to follicular keratinization or inflammatory regulation have been implicated, and sequencing methods such as whole-exome sequencing and variant enrichment analysis continue to identify novel genetic variants and are being used to further elucidate genotype-phenotype correlations. HS-associated autoinflammatory syndromes are an evolving spectrum of rare, severe, diseases in which HS coexists with other autoinflammatory conditions, most commonly PASH and related syndromes. They are driven by innate immune dysregulation and pathogenic genetic variants, with whole-exome sequencing aiding diagnosis and genotype-phenotype correlation. Management is often challenging and highly individualized, with targeted biologic therapies such as IL-1 inhibitors showing the most consistent and rapid clinical benefit.
2026-08-12 | Surgical Outcomes for Hidradenitis Suppurativa: Does Biologic Therapy Make a Difference?
Hidradenitis suppurativa (HS) is a chronic inflammatory skin condition that often requires both medical and surgical management. Biologic therapies are increasingly used for moderate-to-severe disease, but their effect on surgical outcomes remains unclear. The aim of this study was to evaluate the impact of biologic therapy on postoperative outcomes in patients undergoing excisional surgery for HS. The authors conducted a retrospective chart review of adult patients who underwent excisional surgery for HS at a single academic center with at least 6 months of postoperative follow-up. Demographic data, comorbidities, disease severity, biologic use at the time of surgery (adalimumab or infliximab), and surgical outcomes were collected. Statistical analyses compared postoperative outcomes between biologic and nonbiologic groups with false discovery rate correction for multiple testing. Seventy-seven patients undergoing 109 excisions were included, of which 27 (24.8%) occurred while on biologics. All biologic patients had Hurley Stage III disease and greater surgical burden, with more anatomic sites undergoing excision. Healing time, complication rates, recurrence, and need for revision surgery did not significantly differ between groups. Biologic therapy did not impair postoperative healing or increase complications, supporting the safety of combining biologics with surgery for HS.
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