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The Genomic Architecture of Hidradenitis Suppurativa-A Systematic Review

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Journal Front Genet
Date 2022 Apr 11
PMID 35401657
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Abstract

Hidradenitis suppurativa is a chronic, suppurative condition of the pilosebaceous unit manifesting as painful nodules, abscesses, and sinus tracts mostly in, but not limited to, intertriginous skin. Great strides have been made at elucidating the pathophysiology of hidradenitis suppurativa, which appears to be the product of hyperkeratinization and inflammation brought about by environmental factors and a genetic predisposition. The identification of familial hidradenitis suppurativa has sparked research aimed at identifying underlying pathogenic variants in patients who harbor them. The objective of this review is to provide a broad overview of the role of genetics in various aspects of hidradenitis suppurativa, specifically the pathophysiology, diagnosis, and clinical application.

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References
1.
Shi T, Bai N, Zhang J, Lu F, Chen X, Kong X . Mutations in the γ-secretase genes PSEN1, PSENEN, and NCSTN in a family with acne inversa. Eur J Dermatol. 2018; 28(3):374-376. DOI: 10.1684/ejd.2018.3244. View

2.
Daxhelet M, Daoud M, Suppa M, Benhadou F, Njimi H, Tzellos T . European registry for hidradenitis suppurativa: state of play. J Eur Acad Dermatol Venereol. 2020; 35(4):e274-e276. DOI: 10.1111/jdv.17023. View

3.
Zhou P, Liu J, Xu T, Guo Y, Han Y, He Y . Mutations in γ-secretase subunit-encoding PSENEN gene alone may not be sufficient for the development of acne inversa. J Dermatol Sci. 2021; 103(2):73-81. DOI: 10.1016/j.jdermsci.2021.06.007. View

4.
Yu J, Fernandes-Alnemri T, Datta P, Wu J, Juliana C, Solorzano L . Pyrin activates the ASC pyroptosome in response to engagement by autoinflammatory PSTPIP1 mutants. Mol Cell. 2007; 28(2):214-27. PMC: 2719761. DOI: 10.1016/j.molcel.2007.08.029. View

5.
Sannerud R, Esselens C, Ejsmont P, Mattera R, Rochin L, Tharkeshwar A . Restricted Location of PSEN2/γ-Secretase Determines Substrate Specificity and Generates an Intracellular Aβ Pool. Cell. 2016; 166(1):193-208. PMC: 7439524. DOI: 10.1016/j.cell.2016.05.020. View