Home / Acne / Gamma-secretase gene mutations in familial acne inversa.

Gamma-secretase gene mutations in familial acne inversa.

DOI: science.1196284  PMID: 20929727  

Acne inversa (AI), also known as hidradenitis suppurativa, is a chronic, recurrent, inflammatory disease of hair follicles that often runs in families. We studied six Chinese families with features of AI as well as additional skin lesions on back, face, nape, and waist and found independent loss-of-function mutations in PSENEN, PSEN1, or NCSTN, the genes encoding essential components of the γ-secretase multiprotein complex. Our results identify the γ-secretase component genes as the culprits for a subset of familial AI, implicate the γ-secretase-Notch pathway in the molecular pathogenesis of AI, and demonstrate that familial AI can be an allelic disorder of early-onset familial Alzheimer’s disease.

Wang B,  Yang W,  Wen W,  Sun J,  Su B,  Liu B,  Ma D,  Lv D,  Wen Y,  Qu T,  Chen M,  Sun M,  Shen Y,  Zhang X

About

Check Also

Optimizing the use of topical retinoids in Asian acne patients.

DOI: 1346-8138.14314  PMID: 29611225   Acne vulgaris is a common disease among people in Asia. International guidelines and treatment recommendations emphasize the central role of topical retinoids in the management of acne. However, topical retinoids remain underutilized in clinical practise, which may be in part due to fear of retinoid-associated dermatitis/lack of experience, particularly in Asian patients. …

Leave a Reply

Your email address will not be published. Required fields are marked *