Hidradenitis suppurativa associated with chromosomal abnormalities, genodermatoses and genetic disorders: a review

Hidradenitis suppurativa (HS) is a severe chronic relapsing inflammatory disease of the hair follicle unit, characterized by painful nodules, abscesses, tunnels and tracts in intertriginous areas. Although the pathogenic mechanisms of HS have not yet been fully elucidated, genetics is a central component of its pathogenesis, and understanding relevant genetic factors is essential for gaining insights into the molecular mechanisms of HS. We conducted a comprehensive review of common and rare associations between HS and chromosomal and genetic diseases, exploring the pathogenetic links between these diseases. Although rare, the well-documented associations of HS with chromosomal abnormalities, monogenic disorders, genodermatoses and autoinflammatory conditions, many of which are characterized by follicular hyperkeratinization and epidermal hyperproliferation, may provide important insights into HS pathomechanisms and facilitate the identification of novel genetic factors contributing to disease susceptibility.

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Publication Details

Journal
Clinical and Experimental Dermatology
Published
2025-11-12
DOI
https://doi.org/10.1093/ced/llaf506
Primary Topic
Hidradenitis Suppurativa and Treatments
Type
article
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article

Hidradenitis suppurativa associated with chromosomal abnormalities, genodermatoses and genetic disorders: a review

Sara Belleggia, Edoardo De Simoni, Helena Gioacchini, Annamaria Offidani et al.
Clinical and Experimental Dermatology
Hidradenitis Suppurativa and Treatments
article

Hidradenitis suppurativa associated with chromosomal abnormalities, genodermatoses and genetic disorders: a review

Sara Belleggia, Edoardo De Simoni, Helena Gioacchini, Annamaria Offidani, Oriana Simonetti, Donatella Gambini, Elisa Molinelli
article en

Abstract

Hidradenitis suppurativa (HS) is a severe chronic relapsing inflammatory disease of the hair follicle unit, characterized by painful nodules, abscesses, tunnels and tracts in intertriginous areas. Although the pathogenic mechanisms of HS have not yet been fully elucidated, genetics is a central component of its pathogenesis, and understanding relevant genetic factors is essential for gaining insights into the molecular mechanisms of HS. We conducted a comprehensive review of common and rare associations between HS and chromosomal and genetic diseases, exploring the pathogenetic links between these diseases. Although rare, the well-documented associations of HS with chromosomal abnormalities, monogenic disorders, genodermatoses and autoinflammatory conditions, many of which are characterized by follicular hyperkeratinization and epidermal hyperproliferation, may provide important insights into HS pathomechanisms and facilitate the identification of novel genetic factors contributing to disease susceptibility.

Clinical and Experimental DermatologyVol. 51(4)
Marche Polytechnic University (IT)
Openalex Percentile: Top 43%
Hidradenitis Suppurativa and Treatments
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Hidradenitis suppurativa associated with chromosomal abnormalities, genodermatoses and genetic disorders: a review — Sara Belleggia, Edoardo De Simoni, et al. · Clinical and Experimental Dermatology (2025) | TGRS Research Map | TGRS