Author Archives: Blok JL, Jonkman MF, Horváth B

The possible association of hidradenitis suppurativa and Down syndrome: is increased APP expression resulting in impaired Notch signaling the missing link?

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The possible association of hidradenitis suppurativa and Down syndrome: is increased APP expression resulting in impaired Notch signaling the missing link?

Br J Dermatol. 2014 Feb 7;

Authors: Blok JL, Jonkman MF, Horváth B

Abstract
Recently, mutations in genes encoding for ү-secretase (GS) have been demonstrated in familial hidradenitis suppurativa (HS), including presenilin-1 (PSEN1), that probably contribute to the pathogenesis of HS by impairing the Notch signaling pathway. Mutations in PSEN1 are also associated with Alzheimer’s disease (AD), a condition that is strongly related to Down syndrome (DS). Here we describe five cases where HS occurred in DS patients. An association between HS and DS is reasonable since trisomy of chromosome 21 probably leads to overexpression of the amyloid precursor protein (APP) resulting in a change of the substrate pool for GS processing at the expense of the Notch receptors. Consequently, Notch signaling is impaired which predisposes DS individuals to HS. Additionally, the relatively high prevalence of obesity in DS patients as well as alterations in their immune system could underlie the possible association between both conditions. To confirm our hypothesis, further studies are needed investigating the expression of Notch receptors and APP in the epidermis of DS patients. This article is protected by copyright. All rights reserved.

PMID: 24506173 [PubMed – as supplied by publisher]

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