γ-Secretase Mutations in Hidradenitis Suppurativa: New Insights into Disease Pathogenesis

Andrew E. Pink; Michael A. Simpson; Nemesha Desai; Richard C. Trembath; Jonathan N. W. Barker

doi:10.1038/jid.2012.372

γ-Secretase Mutations in Hidradenitis Suppurativa: New Insights into Disease Pathogenesis

Andrew E. Pink, Michael A. Simpson, Nemesha Desai, Richard C. Trembath, Jonathan N. W. Barker^*

^*Corresponding author for this work

Guys & St Thomas NHS Fdn Trust, Guy's & St Thomas' NHS Foundation Trust, Kings College London, University of London, St Johns Inst Dermatol

Research output: Contribution to journal › Article › peer-review

138 Citations (Scopus)

Abstract

Hidradenitis suppurativa (HS) is a debilitating chronic inflammatory skin condition of unclear etiology. It may segregate as an autosomal dominant trait, and heterozygous mutations in the gamma-secretase genes NCSTN, PSENEN, and PSEN1 have recently been reported in a small number of multiplex kindreds and sporadic cases. These mutations highlight gamma-secretase (an enzyme that has been extensively investigated in familial Alzheimer's disease) to have an integral role in cutaneous biology and, more specifically, in HS. In this article, we review the recent genetic data, how they inform disease pathogenesis, and the long-term implications in HS and related diseases. Journal of Investigative Dermatology (2013) 133, 601-607; doi:10.1038/jid.2012.372; published online 25 October 2012

Original language	English
Pages (from-to)	601-607
Number of pages	7
Journal	Journal of Investigative Dermatology
Volume	133
Issue number	3
DOIs	https://doi.org/10.1038/jid.2012.372
Publication status	Published - Mar 2013

Keywords

ALZHEIMERS-DISEASE
ACNE INVERSA
TRANSMEMBRANE DOMAIN
MUTANT PRESENILIN-1
NCSTN MUTATIONS
APOCRINE GLANDS
NICASTRIN
NOTCH
GENE
COMPLEX

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title = "γ-Secretase Mutations in Hidradenitis Suppurativa: New Insights into Disease Pathogenesis",

abstract = "Hidradenitis suppurativa (HS) is a debilitating chronic inflammatory skin condition of unclear etiology. It may segregate as an autosomal dominant trait, and heterozygous mutations in the gamma-secretase genes NCSTN, PSENEN, and PSEN1 have recently been reported in a small number of multiplex kindreds and sporadic cases. These mutations highlight gamma-secretase (an enzyme that has been extensively investigated in familial Alzheimer's disease) to have an integral role in cutaneous biology and, more specifically, in HS. In this article, we review the recent genetic data, how they inform disease pathogenesis, and the long-term implications in HS and related diseases. Journal of Investigative Dermatology (2013) 133, 601-607; doi:10.1038/jid.2012.372; published online 25 October 2012",

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author = "Pink, {Andrew E.} and Simpson, {Michael A.} and Nemesha Desai and Trembath, {Richard C.} and Barker, {Jonathan N. W.}",

year = "2013",

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language = "English",

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AU - Pink, Andrew E.

AU - Simpson, Michael A.

AU - Desai, Nemesha

AU - Trembath, Richard C.

AU - Barker, Jonathan N. W.

PY - 2013/3

Y1 - 2013/3

N2 - Hidradenitis suppurativa (HS) is a debilitating chronic inflammatory skin condition of unclear etiology. It may segregate as an autosomal dominant trait, and heterozygous mutations in the gamma-secretase genes NCSTN, PSENEN, and PSEN1 have recently been reported in a small number of multiplex kindreds and sporadic cases. These mutations highlight gamma-secretase (an enzyme that has been extensively investigated in familial Alzheimer's disease) to have an integral role in cutaneous biology and, more specifically, in HS. In this article, we review the recent genetic data, how they inform disease pathogenesis, and the long-term implications in HS and related diseases. Journal of Investigative Dermatology (2013) 133, 601-607; doi:10.1038/jid.2012.372; published online 25 October 2012

AB - Hidradenitis suppurativa (HS) is a debilitating chronic inflammatory skin condition of unclear etiology. It may segregate as an autosomal dominant trait, and heterozygous mutations in the gamma-secretase genes NCSTN, PSENEN, and PSEN1 have recently been reported in a small number of multiplex kindreds and sporadic cases. These mutations highlight gamma-secretase (an enzyme that has been extensively investigated in familial Alzheimer's disease) to have an integral role in cutaneous biology and, more specifically, in HS. In this article, we review the recent genetic data, how they inform disease pathogenesis, and the long-term implications in HS and related diseases. Journal of Investigative Dermatology (2013) 133, 601-607; doi:10.1038/jid.2012.372; published online 25 October 2012

KW - ALZHEIMERS-DISEASE

KW - ACNE INVERSA

KW - TRANSMEMBRANE DOMAIN

KW - MUTANT PRESENILIN-1

KW - NCSTN MUTATIONS

KW - APOCRINE GLANDS

KW - NICASTRIN

KW - NOTCH

KW - GENE

KW - COMPLEX

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ER -

γ-Secretase Mutations in Hidradenitis Suppurativa: New Insights into Disease Pathogenesis

Abstract

Keywords

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