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J Invest Dermatol. 2013 Mar;133(3):601-607. doi: 10.1038/jid.2012.372. Epub 2012 Oct 25.

γ-Secretase mutations in hidradenitis suppurativa: new insights into disease pathogenesis.

Author information

1
Division of Genetics and Molecular Medicine, King's College London School of Medicine, King's College London, London, UK.
2
St John's Institute of Dermatology, Guy's & St. Thomas' NHS Foundation Trust, London, UK.
3
Division of Genetics and Molecular Medicine, King's College London School of Medicine, King's College London, London, UK; Queen Mary University of London, Bart's and The London School of Medicine and Dentistry, London, UK.
4
Division of Genetics and Molecular Medicine, King's College London School of Medicine, King's College London, London, UK. Electronic address: jonathan.barker@kcl.ac.uk.

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 γ-secretase genes NCSTN, PSENEN, and PSEN1 have recently been reported in a small number of multiplex kindreds and sporadic cases. These mutations highlight γ-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.

PMID:
23096707
DOI:
10.1038/jid.2012.372
[Indexed for MEDLINE]
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