The Genomic Architecture of Hidradenitis Suppurativa-A Systematic Review.

familial gamma secretase (γ-secretase) genetics hidradenitis suppurativa pathophysiology

Journal

Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621

Informations de publication

Date de publication:
2022
Historique:
received: 24 01 2022
accepted: 07 03 2022
entrez: 11 4 2022
pubmed: 12 4 2022
medline: 12 4 2022
Statut: epublish

Résumé

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.

Identifiants

pubmed: 35401657
doi: 10.3389/fgene.2022.861241
pii: 861241
pmc: PMC8986338
doi:

Types de publication

Journal Article Review

Langues

eng

Pagination

861241

Informations de copyright

Copyright © 2022 Pace, Mintoff and Borg.

Déclaration de conflit d'intérêts

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Références

Eur J Dermatol. 2018 Jun 1;28(3):374-376
pubmed: 30105992
J Eur Acad Dermatol Venereol. 2021 Apr;35(4):e274-e276
pubmed: 33135255
J Dermatol Sci. 2021 Aug;103(2):73-81
pubmed: 34330582
Mol Cell. 2007 Oct 26;28(2):214-27
pubmed: 17964261
Cell. 2016 Jun 30;166(1):193-208
pubmed: 27293189
J Am Acad Dermatol. 2012 Mar;66(3):409-15
pubmed: 21745697
Br J Dermatol. 2020 Feb;182(2):491-493
pubmed: 31421058
Int J Dermatol. 2022 Aug;61(8):e293-e294
pubmed: 34860362
Cell. 2006 Mar 10;124(5):985-96
pubmed: 16530045
J Invest Dermatol. 2012 Jun;132(6):1728-30
pubmed: 22358060
Br J Dermatol. 2019 Sep;181(3):566-571
pubmed: 30693478
Nucleic Acids Res. 2018 Jul 2;46(W1):W350-W355
pubmed: 29718330
Nature. 2000 Sep 7;407(6800):48-54
pubmed: 10993067
J Eur Acad Dermatol Venereol. 2019 Oct;33 Suppl 6:32-33
pubmed: 31535764
J Biol Chem. 2005 Feb 25;280(8):6471-8
pubmed: 15591316
Br J Dermatol. 2018 Apr;178(4):984-986
pubmed: 29274243
J Med Genet. 1984 Aug;21(4):281-5
pubmed: 6492093
Front Immunol. 2020 May 20;11:847
pubmed: 32508815
Br J Dermatol. 2013 Jan;168(1):206-9
pubmed: 22834455
Joint Bone Spine. 2017 Mar;84(2):159-162
pubmed: 27238193
Mol Genet Genomics. 2018 Dec;293(6):1469-1475
pubmed: 30030622
Cell Mol Life Sci. 2009 May;66(10):1631-46
pubmed: 19165418
J Biol Chem. 2008 Jul 18;283(29):20096-105
pubmed: 18502756
J Allergy Clin Immunol. 2018 Dec;142(6):1947-1955
pubmed: 29432774
J Eur Acad Dermatol Venereol. 2021 May;35(5):1203-1211
pubmed: 33336462
Exp Dermatol. 2019 Feb;28 Suppl 2:5-55
pubmed: 30723943
Proc Natl Acad Sci U S A. 2014 Sep 16;111(37):13349-54
pubmed: 25197054
ACS Chem Neurosci. 2019 Jun 19;10(6):2931-2938
pubmed: 30979338
J Dermatol. 2020 Nov;47(11):1335-1337
pubmed: 32770559
J Cell Mol Med. 2018 Feb;22(2):823-833
pubmed: 28994238
J Invest Dermatol. 2011 Jul;131(7):1568-70
pubmed: 21412258
Clin Exp Dermatol. 2021 Oct;46(7):1387-1390
pubmed: 34273117
Br J Dermatol. 2019 Dec;181(6):1198-1206
pubmed: 30919434
J Dermatol. 2018 Aug;45(8):e213-e214
pubmed: 29575118
Br J Dermatol. 2011 Feb;164(2):367-71
pubmed: 20831631
J Invest Dermatol. 2019 Jan;139(1):124-134
pubmed: 30120935
Br J Dermatol. 2019 Oct;181(4):852-854
pubmed: 30968946
J Eur Acad Dermatol Venereol. 2021 Jan;35(1):203-210
pubmed: 32978818
Dermatology. 2016;232(2):254-8
pubmed: 26919742
Br J Dermatol. 2019 Jun;180(6):1459-1467
pubmed: 30488432
JAMA Dermatol. 2021 Apr 1;157(4):449-455
pubmed: 33688910
J Invest Dermatol. 2016 Jun;136(6):1283-1286
pubmed: 26968259
Br J Dermatol. 1983 Apr;108(4):473-6
pubmed: 6838773
Int J Dermatol. 2015 Sep;54(9):e369-71
pubmed: 26175185
J Invest Dermatol. 2011 Jul;131(7):1570-2
pubmed: 21430701
SAGE Open Med Case Rep. 2020 Sep 25;8:2050313X20953113
pubmed: 33029352
Int J Dermatol. 2021 Aug;60(8):944-950
pubmed: 33368260
J Eur Acad Dermatol Venereol. 2021 Jun;35(6):1386-1392
pubmed: 33559291
J Cell Sci. 2015 Feb 1;128(3):589-98
pubmed: 25501811
Br J Dermatol. 2022 Jan;186(1):78-85
pubmed: 34289077
Br J Dermatol. 2020 Oct;183(4):758-759
pubmed: 32282940
J Eur Acad Dermatol Venereol. 2015 Nov;29(11):2243-7
pubmed: 25352307
Ann Plast Surg. 2021 Apr 1;86(4):400-405
pubmed: 32881749
Blood. 2014 Apr 24;123(17):2703-14
pubmed: 24421327
F1000Res. 2021 May 13;10:381
pubmed: 34540202
J Invest Dermatol. 2020 Oct;140(10):2085-2088.e14
pubmed: 32142795
J Med Genet. 1985 Oct;22(5):367-73
pubmed: 2934550
Br J Dermatol. 2013 Apr;168(4):874-6
pubmed: 23013355
J Rheumatol. 2018 Nov;45(11):1605-1607
pubmed: 30068763
Br J Dermatol. 2013 May;168(5):1141-3
pubmed: 23517242
Immunity. 2021 Oct 12;54(10):2321-2337.e10
pubmed: 34582748
J Clin Rheumatol. 2012 Dec;18(8):413-5
pubmed: 23188209
Nature. 2014 Aug 14;512(7513):166-170
pubmed: 25043039
Adv Exp Med Biol. 2012;727:15-36
pubmed: 22399336
Nature. 2016 Aug 17;536(7616):285-91
pubmed: 27535533
Cell Biol Int. 2015 Dec;39(12):1384-94
pubmed: 26179737
Am J Hum Genet. 2014 Jan 2;94(1):135-43
pubmed: 24387993
Br J Dermatol. 2020 Apr;182(4):1042-1043
pubmed: 31594026
Ann Plast Surg. 1987 Mar;18(3):230-7
pubmed: 2954503
J Cell Biol. 2008 Oct 6;183(1):37-48
pubmed: 18824566
J Dermatol Sci. 2014 May;74(2):180-2
pubmed: 24581508
Br J Dermatol. 2013 May;168(5):1034-9
pubmed: 23320858
Int J Mol Sci. 2021 Feb 03;22(4):
pubmed: 33546374
BMC Dermatol. 2002 Apr 29;2:7
pubmed: 11978185
Exp Dermatol. 2013 Mar;22(3):172-7
pubmed: 23489419
JAAD Case Rep. 2017 Dec 18;4(1):17-21
pubmed: 29296643
Int J Mol Sci. 2020 Jun 13;21(12):
pubmed: 32545758
Dermatology. 2022;238(5):860-869
pubmed: 35034021
BMC Bioinformatics. 2010 Nov 08;11:548
pubmed: 21059217
Acta Derm Venereol. 2016 Mar;96(3):408-9
pubmed: 26463457
J Eur Acad Dermatol Venereol. 2017 Nov;31(11):1809-1816
pubmed: 28696038
Br J Dermatol. 2018 Feb;178(2):328
pubmed: 29441533
Australas J Dermatol. 2020 Nov;61(4):e399-e402
pubmed: 32478413
Am J Hum Genet. 2013 Jun 6;92(6):895-903
pubmed: 23684010
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
JAAD Case Rep. 2016 Sep 28;2(5):366-368
pubmed: 27709123
Chin Med J (Engl). 2016 5th Dec;129(23):2834-2839
pubmed: 27900998
Br J Dermatol. 2016 Apr;174(4):927-9
pubmed: 26522179
Nat Genet. 2016 Jan;48(1):4-6
pubmed: 26711108
Arthritis Rheumatol. 2017 Nov;69(11):2233-2240
pubmed: 28692792
J Eur Acad Dermatol Venereol. 2021 Jul;35(7):e439-e440
pubmed: 33587775
Proc Natl Acad Sci U S A. 2003 Nov 11;100(23):13501-6
pubmed: 14595024
Br J Dermatol. 2016 Aug;175(2):414-6
pubmed: 26879264
Curr Biol. 2003 Feb 18;13(4):333-8
pubmed: 12593800
Genet Epidemiol. 2009;33 Suppl 1:S33-9
pubmed: 19924720
Eur J Dermatol. 2021 Apr 1;31(2):246-248
pubmed: 33814361
Br J Dermatol. 2022 Jan;186(1):183-185
pubmed: 34498254
Br J Dermatol. 2016 Jul;175(1):194-8
pubmed: 26713508
J Invest Dermatol. 2019 Jun;139(6):1294-1305
pubmed: 30528824
Int J Dermatol. 2017 Jun;56(6):660-663
pubmed: 28194777
J Invest Dermatol. 2015 Feb;135(2):618-620
pubmed: 25211177
Clin Exp Dermatol. 2018 Apr;43(3):329-332
pubmed: 29314153
J Am Acad Dermatol. 2018 Sep;79(3):577-578
pubmed: 29486212
J Invest Dermatol. 2012 Oct;132(10):2459-2461
pubmed: 22622421
J Invest Dermatol. 2006 Jun;126(6):1302-6
pubmed: 16543891
J Biol Chem. 2016 Mar 25;291(13):6748-53
pubmed: 26887941
Dev Cell. 2002 Jul;3(1):85-97
pubmed: 12110170
Exp Dermatol. 2010 Sep;19(9):851-3
pubmed: 20698881
J Biol Chem. 2009 Oct 23;284(43):29714-24
pubmed: 19729449
Hum Mutat. 2012 May;33(5):777-80
pubmed: 22504886
Dermatology. 2020;236(5):431-438
pubmed: 32516781
Br J Dermatol. 2016 Sep;175(3):632-5
pubmed: 27467207
Dev Cell. 2004 Nov;7(5):731-43
pubmed: 15525534
J Mol Biol. 2019 May 17;431(11):2197-2212
pubmed: 30995449
J Eur Acad Dermatol Venereol. 2020 Oct;34(10):2353-2361
pubmed: 32078194
Clin Dermatol. 2021 Mar-Apr;39(2):240-247
pubmed: 34272017
Nature. 2015 Nov 5;527(7576):S14-5
pubmed: 26536218
J Eur Acad Dermatol Venereol. 2013 Dec;27(12):1571-4
pubmed: 22759192
Br J Dermatol. 2021 Feb;184(2):374
pubmed: 32894577
Development. 2011 Feb;138(3):495-505
pubmed: 21205794
Ann Dermatol. 2020 Jun;32(3):237-242
pubmed: 33911744
Br J Dermatol. 2016 Mar;174(3):522-32
pubmed: 26473517
Lancet Diabetes Endocrinol. 2018 May;6(5):361-369
pubmed: 29503172
Am J Med Genet A. 2020 Nov;182(11):2662-2665
pubmed: 33200913
J Alzheimers Dis. 2021;82(1):327-347
pubmed: 34024832
Development. 2020 Aug 14;147(15):
pubmed: 32816903
PLoS One. 2009 Jul 07;4(7):e6147
pubmed: 19584923
JAMA Dermatol. 2021 Aug 01;157(8):924-931
pubmed: 34037678
Exp Dermatol. 2016 Apr;25(4):314-6
pubmed: 26663538
J Cutan Med Surg. 2019 Sep/Oct;23(5):519-527
pubmed: 31167568
JAMA Dermatol. 2022 Mar 01;158(3):300-313
pubmed: 35044423
JAMA Dermatol. 2013 Jun;149(6):762-4
pubmed: 23571383
JAMA Dermatol. 2021 Apr 1;157(4):385-391
pubmed: 33625473
Int J Clin Exp Pathol. 2018 Apr 01;11(4):1878-1889
pubmed: 31938294
Acta Derm Venereol. 2020 Oct 6;100(17):adv00283
pubmed: 32926179
Br J Dermatol. 2015 Aug;173(2):610-2
pubmed: 25601011
J Invest Dermatol. 2013 Jun;133(6):1506-11
pubmed: 23235532
Science. 2010 Nov 19;330(6007):1065
pubmed: 20929727
Br J Dermatol. 2021 Feb;184(2):375-376
pubmed: 32895925
Indian Dermatol Online J. 2014 Oct;5(4):491-3
pubmed: 25396138
Exp Dermatol. 2014 Feb;23(2):113-8
pubmed: 24330353
Genes Dev. 2006 Nov 1;20(21):3022-35
pubmed: 17079689
Indian Dermatol Online J. 2020 Sep 28;12(1):147-149
pubmed: 33768038
J Cell Biochem. 2021 Jan;122(1):69-85
pubmed: 32830360
Vaccines (Basel). 2021 Sep 25;9(10):
pubmed: 34696185
Chin Med J (Engl). 2020 Oct 5;133(19):2383-2385
pubmed: 32852387
Br J Dermatol. 2018 Feb;178(2):502-508
pubmed: 28922471
Dev Biol. 2000 Dec 15;228(2):151-65
pubmed: 11112321
J Am Acad Dermatol. 2015 Jan;72(1):e42-4
pubmed: 25497954
J Invest Dermatol. 2017 Oct;137(10):2234-2236
pubmed: 28601418
Clin Exp Dermatol. 2021 Oct;46(7):1306-1308
pubmed: 33852739
J Dermatol Sci. 2008 Mar;49(3):187-94
pubmed: 17624739
JAAD Case Rep. 2017 Feb 04;3(1):70-73
pubmed: 28203623
Br J Dermatol. 2011 Aug;165(2):415-8
pubmed: 21495993
Medicine (Baltimore). 2014 Dec;93(27):e187
pubmed: 25501066
Exp Dermatol. 2022 Apr;31(4):643-644
pubmed: 34748240
Cell. 2005 Aug 12;122(3):435-47
pubmed: 16096062
Bioinformatics. 2019 Jun 1;35(11):1978-1980
pubmed: 30376034
Dermatology. 2021;237(3):365-371
pubmed: 33171462
Br J Dermatol. 1985 Jul;113(1):1-8
pubmed: 4015966
JAMA Dermatol. 2020 Dec 1;156(12):1359-1362
pubmed: 33052394
J Clin Invest. 2017 Apr 3;127(4):1485-1490
pubmed: 28287404
EMBO Rep. 2007 Aug;8(8):743-8
pubmed: 17668005
Case Rep Dermatol Med. 2020 Jul 2;2020:8842242
pubmed: 32695530

Auteurs

Nikolai Paul Pace (NP)

Center for Molecular Medicine and Biobanking, University of Malta, Msida, Malta.

Dillon Mintoff (D)

Department of Pathology, Faculty of Medicine and Surgery, University of Malta, Msida, Malta.
Department of Dermatology, Mater Dei Hospital, Msida, Malta.

Isabella Borg (I)

Center for Molecular Medicine and Biobanking, University of Malta, Msida, Malta.
Department of Pathology, Faculty of Medicine and Surgery, University of Malta, Msida, Malta.
Department of Pathology, Mater Dei Hospital, Msida, Malta.

Classifications MeSH