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Case Report: Comorbid Hyper-IgD Syndrome and Hidradenitis Suppurativa – A New Syndromic Form of HS? A Report of Two Cases

Hidradenitis Suppurativa (HS) is a chronic suppurative disease of the pilosebaceous unit. The current model of HS pathophysiology describes the condition as the product of hyperkeratinisation and inflammation at the hair follicular unit. Environmental factors (such as smoking and obesity), gender, g...

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Autores principales: Guillem, Philippe, Mintoff, Dillon, Kabbani, Mariam, Cogan, Elie, Vlaeminck-Guillem, Virginie, Duquesne, Agnes, Benhadou, Farida
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9204359/
https://www.ncbi.nlm.nih.gov/pubmed/35720358
http://dx.doi.org/10.3389/fimmu.2022.883811
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author Guillem, Philippe
Mintoff, Dillon
Kabbani, Mariam
Cogan, Elie
Vlaeminck-Guillem, Virginie
Duquesne, Agnes
Benhadou, Farida
author_facet Guillem, Philippe
Mintoff, Dillon
Kabbani, Mariam
Cogan, Elie
Vlaeminck-Guillem, Virginie
Duquesne, Agnes
Benhadou, Farida
author_sort Guillem, Philippe
collection PubMed
description Hidradenitis Suppurativa (HS) is a chronic suppurative disease of the pilosebaceous unit. The current model of HS pathophysiology describes the condition as the product of hyperkeratinisation and inflammation at the hair follicular unit. Environmental factors (such as smoking and obesity), gender, genetic predisposition, and skin dysbiosis are considered the main pathogenic drivers of the disease. Autoinflammatory syndromes associated with HS are rare but may help to highlight the potential roles of autoinflammation and dysregulated innate immune system in HS. Therefore, it is of major relevance to increase the awareness about these diseases in order to improve the understanding of the disease and to optimize the management of the patients. Herein, we report for the first time, to our knowledge, two clinical cases of Hyper-IgD syndrome-associated HS. Hyper-IgD is an autoinflammatory syndrome caused by a mevalonate kinase deficiency (MKD), a key kinase in the sterol and isoprenoid production pathway. We describe the potentially shared pathophysiological mechanisms underpinning comorbid MKD-HS and propose therapeutic options for the management of these patients.
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spelling pubmed-92043592022-06-18 Case Report: Comorbid Hyper-IgD Syndrome and Hidradenitis Suppurativa – A New Syndromic Form of HS? A Report of Two Cases Guillem, Philippe Mintoff, Dillon Kabbani, Mariam Cogan, Elie Vlaeminck-Guillem, Virginie Duquesne, Agnes Benhadou, Farida Front Immunol Immunology Hidradenitis Suppurativa (HS) is a chronic suppurative disease of the pilosebaceous unit. The current model of HS pathophysiology describes the condition as the product of hyperkeratinisation and inflammation at the hair follicular unit. Environmental factors (such as smoking and obesity), gender, genetic predisposition, and skin dysbiosis are considered the main pathogenic drivers of the disease. Autoinflammatory syndromes associated with HS are rare but may help to highlight the potential roles of autoinflammation and dysregulated innate immune system in HS. Therefore, it is of major relevance to increase the awareness about these diseases in order to improve the understanding of the disease and to optimize the management of the patients. Herein, we report for the first time, to our knowledge, two clinical cases of Hyper-IgD syndrome-associated HS. Hyper-IgD is an autoinflammatory syndrome caused by a mevalonate kinase deficiency (MKD), a key kinase in the sterol and isoprenoid production pathway. We describe the potentially shared pathophysiological mechanisms underpinning comorbid MKD-HS and propose therapeutic options for the management of these patients. Frontiers Media S.A. 2022-05-26 /pmc/articles/PMC9204359/ /pubmed/35720358 http://dx.doi.org/10.3389/fimmu.2022.883811 Text en Copyright © 2022 Guillem, Mintoff, Kabbani, Cogan, Vlaeminck-Guillem, Duquesne and Benhadou https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Immunology
Guillem, Philippe
Mintoff, Dillon
Kabbani, Mariam
Cogan, Elie
Vlaeminck-Guillem, Virginie
Duquesne, Agnes
Benhadou, Farida
Case Report: Comorbid Hyper-IgD Syndrome and Hidradenitis Suppurativa – A New Syndromic Form of HS? A Report of Two Cases
title Case Report: Comorbid Hyper-IgD Syndrome and Hidradenitis Suppurativa – A New Syndromic Form of HS? A Report of Two Cases
title_full Case Report: Comorbid Hyper-IgD Syndrome and Hidradenitis Suppurativa – A New Syndromic Form of HS? A Report of Two Cases
title_fullStr Case Report: Comorbid Hyper-IgD Syndrome and Hidradenitis Suppurativa – A New Syndromic Form of HS? A Report of Two Cases
title_full_unstemmed Case Report: Comorbid Hyper-IgD Syndrome and Hidradenitis Suppurativa – A New Syndromic Form of HS? A Report of Two Cases
title_short Case Report: Comorbid Hyper-IgD Syndrome and Hidradenitis Suppurativa – A New Syndromic Form of HS? A Report of Two Cases
title_sort case report: comorbid hyper-igd syndrome and hidradenitis suppurativa – a new syndromic form of hs? a report of two cases
topic Immunology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9204359/
https://www.ncbi.nlm.nih.gov/pubmed/35720358
http://dx.doi.org/10.3389/fimmu.2022.883811
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