Faculty Opinions Recommendation of Hidradenitis Suppurativa as a Potential Subtype of Autoinflammatory Keratinization Disease

December 2020 in “ Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ”

Takashi Hashimoto

Hidradenitis suppurativa chronic skin disease squamous cell carcinoma biologics cytokines inflammatory gamma-secretase gene Notch signaling keratinization hair follicle occlusion follicular cysts HS skin disease carcinoma inflammation gene mutation signaling pathway hair follicle blockage cysts

TLDR Hidradenitis suppurativa may be a type of autoinflammatory skin disease linked to gene mutations and immune system issues.

Hidradenitis suppurativa (HS) was discussed as a chronic skin disease that significantly reduced patients' quality of life and could develop into squamous cell carcinoma. The pathogenesis of HS remained controversial, but recent effectiveness of biologics for cytokines indicated its inflammatory nature. Familial HS cases were linked to mutations in the gamma-secretase gene, affecting Notch signaling and causing aberrant keratinization, including hair follicle occlusion, suggesting follicular cysts as the initial event. The review summarized these two possible pathogeneses, aiding in better understanding of HS.

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Analysis of Hidradenitis Suppurativa-Linked Mutations in Four Genes and the Effects of PSEN1-P242LfsX11 on Cytokine and Chemokine Expression in Macrophages

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25 citations, December 2018 in “Human Molecular Genetics”

The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.

T Helper 17 Cell/Regulatory T-Cell Imbalance in Hidradenitis Suppurativa/Acne Inversa: The Link to Hair Follicle Dissection, Obesity, Smoking, and Autoimmune Comorbidities

research T Helper 17 Cell/Regulatory T-Cell Imbalance in Hidradenitis Suppurativa/Acne Inversa: The Link to Hair Follicle Dissection, Obesity, Smoking, and Autoimmune Comorbidities

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An imbalance between certain immune cells is linked to a chronic skin condition and may be influenced by obesity, smoking, and autoimmune issues.

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