Concurrent hidradenitis suppurativa and Dowling-Degos disease taken down a ‘Notch’

McGrath, John A.

doi:10.1111/bjd.16068

Cited by 7 publications

(9 citation statements)

References 5 publications

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“…Here, it is also interesting to note that certain mutations in the genes encoding PS1 or the γ-secretase components NCT and PEN2 are associated with hidradenitis suppurativa [114,115]. Although impaired cleavage of Notch might be implicated [116], additional mechanisms could also contribute to pathogenesis [117].…”

Section: Functions Of Presenilins In Membrane Protein Metabolismmentioning

confidence: 99%

Presenilins and γ-Secretase in Membrane Proteostasis

Oikawa

Walter

2019

Cells

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The presenilin (PS) proteins exert a crucial role in the pathogenesis of Alzheimer disease (AD) by mediating the intramembranous cleavage of amyloid precursor protein (APP) and the generation of amyloid β-protein (Aβ). The two homologous proteins PS1 and PS2 represent the catalytic subunits of distinct γ-secretase complexes that mediate a variety of cellular processes, including membrane protein metabolism, signal transduction, and cell differentiation. While the intramembrane cleavage of select proteins by γ-secretase is critical in the regulation of intracellular signaling pathways, the plethora of identified protein substrates could also indicate an important role of these enzyme complexes in membrane protein homeostasis. In line with this notion, PS proteins and/or γ-secretase has also been implicated in autophagy, a fundamental process for the maintenance of cellular functions and homeostasis. Dysfunction in the clearance of proteins in the lysosome and during autophagy has been shown to contribute to neurodegeneration. This review summarizes the recent knowledge about the role of PS proteins and γ-secretase in membrane protein metabolism and trafficking, and the functional relation to lysosomal activity and autophagy.

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Section: Functions Of Presenilins In Membrane Protein Metabolismmentioning

confidence: 99%

Presenilins and γ-Secretase in Membrane Proteostasis

Oikawa

Walter

2019

Cells

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Section: Discussionmentioning

confidence: 99%

“…This supports the hypothesis that this defect is related to epithelial and follicular proliferation, ultimately leading to occlusion and inflammation. 12,13,15 -17…”

Section: Discussionmentioning

confidence: 99%

“…2 It is believed that γ-secretase is a key regulator of the Notch signaling pathway, and mutations here are thought to lead to epidermal and follicular abnormalities, including formation of epidermal cysts. 12,13 The overlap of these 2 conditions could be suggestive of an unrecognized common defect in follicular proliferation. Mutations in keratin 17 (KRT17), a gene encoding the type 1 intermediate filament chain keratin 17 found in sebaceous glands, hair follicles, and other epidermal appendages, have been identified in patients with SM as well as patients with paronychia congenita type 2 (PC-2) 5,14 PC2 is an autosomal dominant disorder associated with nail dystrophy, palmoplantar keratoderma, follicular keratosis, and epidermal inclusion cysts.…”

Section: Discussionmentioning

confidence: 99%

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Coexistence of Hidradenitis Suppurativa and Steatocystoma Multiplex: Is It a New Variant of Hidradenitis Suppurativa?

Fletcher

Ríos

Jambrosic³

et al. 2021

J Cutan Med Surg

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Hidradenitis suppurativa and steatocystoma multiplex may coexist in the same patient. The overlap of these 2 conditions could be suggestive of an unrecognized defect in follicular proliferation mutual in the pathogenesis of both conditions. Here we present 5 patients with both hidradenitis suppurativa and steatocystoma multiplex. Recognizing the overlap between these 2 conditions is important for accurate diagnosis, management, and identification of potential surgical candidates, as well as future basic science research.

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“…[ 6 ] DDD have been reported in several rare association in past like Hidradenitis suppuritiva, Dariers disease, Reticulate acropigmentation of kitamura, Malignant melanoma, and Psoriasis. [ 7 8 9 10 11 ] To best of our knowledge simultaneous overlap of follicular Dowling Degos and lichen planus has not been reported.…”

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confidence: 99%