Major gaps in understanding and treatment of hidradenitis suppurativa

Hoffman, Lauren; Ghias, Mondana; Garg, Amit; Hamzavi, Iltefat; Alavi, Afsáneh; Lowes, Michelle A.

doi:10.12788/j.sder.2017.024

Cited by 22 publications

(26 citation statements)

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“…Inherited forms of HS are considered monogenic in origin . For patients who present with limited disease, the risk of progression of their HS and development of discharging sinuses and hypertrophic scarring is currently unknown . There are no clinical indicators or serum biomarkers available to help guide more aggressive treatment for those patients at risk of developing severe disease.…”

Section: Current Phenotype Classifications In Hidradenitis Suppurativmentioning

confidence: 99%

Inter‐rater reliability of phenotypes and exploratory genotype–phenotype analysis in inherited hidradenitis suppurativa

et al. 2019

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Summary Background Genotype–phenotype correlation measures the correlation between the presence of a physical trait with a group of similar mutations but is dependent on reliable phenotyping. It can provide information on disease pathogenesis, future disease progression, severity or activity. Such indicators would be valuable in hidradenitis suppurativa (HS). Objectives To assess inter‐rater reliability (IRR) of HS clinical phenotypes and perform exploratory genotype–phenotype correlation in cases of HS with identified sequence variants. Methods Linkage disequilibrium between variants was assessed. Genotype–phenotype correlations were explored using Spearman correlation coefficients. IRR was calculated using Cohen's κ. Correlation between phenotype classifications was assessed using the χ2 statistic. Results Forty‐three sequence variants with clinical information were identified. Clinical phenotypes were classified as LC2 (n = 29; 67%), scarring folliculitis (n = 18; 42%), atypical (n = 38; 88%) and nodular (n = 26; 60%). LC1 phenotype was associated with regular (χ2 = 41·289, P < 0·001) and typical (χ2 = 29·013, P < 0·001) phenotypes. Cohen's κ was highest for van der Zee and Jemec (0·815), followed by Martorell‐Calatayud et al. (0·813), Naasan and Affleck (0·774) and Canoui‐Poitrine et al. (0·435) classifications. High linkage disequilibrium was seen between variants of Han Chinese pedigrees. No significant genotype–phenotype correlations were identified. Conclusions These findings may be influenced by selection, publication bias and the assumption that HS is a monogenic disorder. The poor IRR of existing phenotype measures suggests limited utility of existing measures. Further investigations into the correlation of clinical phenotypes with inflammatory biomarkers may aid in prognostic efforts for this disease. What's already known about this topic? Genotype–phenotype correlation can provide information regarding disease pathogenesis and predictions for future disease progression, severity or activity. The identification of such indicators in hidradenitis suppurativa (HS) would be valuable for patients and clinicians alike, given the lack of biomarkers or clinical predictors of disease. What does this study add? Sixty‐five sequence variants across 20 separate genes were identified. There was no significant correlation between phenotype classification in four separate classification schema and gene, mutation type or impact on Notch signalling. Utility of current phenotype measurements are limited. The lack of genotype–phenotype correlation in HS is suggestive that the underlying assumption of inherited HS as a monogenic disorder may need revision.

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Section: Current Phenotype Classifications In Hidradenitis Suppurativmentioning

confidence: 99%

Inter‐rater reliability of phenotypes and exploratory genotype–phenotype analysis in inherited hidradenitis suppurativa

et al. 2019

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“…Ongoing inflammation leads to recurrent abscesses and dermal sinuses that can span entire anatomical regions and can be difficult to control . HS disproportionately affects black populations, and studies show that chronic pain, depression and disability contribute to an overall impaired quality of life …”

Section: Reportmentioning

confidence: 99%

“…Major gaps in the understanding and treatment of HS persist, and this may be partially due to the lack of an appropriate animal model . Potential models have only been minimally explored and include canine HS, German Shepherd pyoderma and γ‐secretase knockout mice; but to our knowledge, no suitable animal model for HS is currently available.…”

Section: Reportmentioning

confidence: 99%

Lessons learned from the development of a hidradenitis suppurativa xenograft mouse model

et al. 2019

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Summary Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease originating from the pilosebaceous unit, in which patients develop painful abscesses, sinus tracts, nodules and scarring, typically in intertriginous areas. Major gaps in our understanding of HS exist, and these may be partially due to the lack of an animal model for experimental studies. We developed an HS xenograft mouse model using human HS lesions grafted onto immunocompromised mice. Although the model had its limitations, several informative lessons were learned, which may contribute to future attempts at an HS animal model.

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“…Recent effective targeted therapy directed at the IL-4/13 axis has demonstrated the importance of this pathway in AD [49]. The cytokine signature in HS is not fully elucidated, but may include dysregulation of TNF, IL-1, IL-12/23, IL-17, and IL-6 [50]. As discussed above, cytokines such as IL-6 and TNF-α may contribute to central nervous system changes and microglial remodeling [15].…”

Section: The Skin As a Source Of Pro-inflammatory Mediatorsmentioning

confidence: 99%

Inflammation: A Contributor to Depressive Comorbidity in Inflammatory Skin Disease

Farzanfar

Dowlati

French

et al. 2018

Skin Pharmacol Physiol

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The prevalence of affective disorders such as depression and anxiety is particularly high in patients with autoimmune diseases, including inflammatory skin diseases such as psoriasis, atopic dermatitis, and hidradenitis suppurativa. A dysregulated immune response has been linked to the precipitation of depression in many patient populations. However, studies examining the extent to which the underlying skin disease inflammatory processes contribute to depression and a subsequent decline in quality of life are limited. The published literature over the past 5 years was reviewed for evidence of a relationship between depression and inflammatory processes in the context of skin pathology. The findings, particularly the evidence from interventional clinical trials of targeted anti-cytokine therapies, suggest that pro-inflammatory cytokines associated with several skin diseases may be causally linked with the coexistent depressive symptomology.

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Major gaps in understanding and treatment of hidradenitis suppurativa

Cited by 22 publications

References 0 publications

Inter‐rater reliability of phenotypes and exploratory genotype–phenotype analysis in inherited hidradenitis suppurativa

Inter‐rater reliability of phenotypes and exploratory genotype–phenotype analysis in inherited hidradenitis suppurativa

Lessons learned from the development of a hidradenitis suppurativa xenograft mouse model

Inflammation: A Contributor to Depressive Comorbidity in Inflammatory Skin Disease

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