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

Studysummary This mini review discusses insights into the pathogenesis of hidradenitis suppurativa, highlighting genetic mutations, autoinflammation, and the effectiveness of biologics, and introduces the concept of autoinflammatory keratinization disease, without reporting new clinical results.

Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer

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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Research cited in this study

4 / 4 results

research Hidradenitis Suppurativa and Mediterranean Fever Gene Mutations

7 citations , August 2019 in “JAAD Case Reports”

This article reviews the potential relationship between serum amyloid A and hidradenitis suppurativa, highlighting genetic influences, but reports no new clinical findings.

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

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

25 citations , December 2018 in “Human Molecular Genetics”

This study found that the PSEN1-P242LfsX11 mutation in hidradenitis suppurativa influences cytokine and chemokine expression in macrophages, potentially affecting inflammatory responses.

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

66 citations , March 2018 in “British journal of dermatology/British journal of dermatology, Supplement”

This article reviews the role of perifollicular regulatory T cells in maintaining hair follicle integrity in the context of hidradenitis suppurativa and calls attention to inflammatory mechanisms without reporting new clinical results.

research Mutations in Gamma-Secretase Subunit-Encoding PSENEN Underlie Dowling-Degos Disease Associated with Acne Inversa

87 citations , March 2017 in “Journal of Clinical Investigation”

In this study, researchers identified PSENEN mutations that can lead to a form of Dowling-Degos disease, characterized by follicular hyperkeratosis and an increased susceptibility to acne inversa, especially in the presence of certain trigger factors.