XYY Chromosome Complement in a Patient with Nodulocystic Acne

Sosis, Arthur C; Panet-Raymond, Giles; Goldenberg, Denisse

doi:10.1159/000251969

Cited by 10 publications

(2 citation statements)

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“…Concurrent nodulocystic acne and XYY genotype have been observed by several investigators . Two case reports demonstrated the association of trisomy 8 and trisomy 13 mosaicism with severe facial acne.…”

Section: Genes and Loci Involved In Acnementioning

confidence: 82%

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Genetic architecture of acne vulgaris

Lichtenberger

Simpson

Smith

et al. 2017

Acad Dermatol Venereol

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Acne vulgaris is a ubiquitary skin disease characterized by chronic inflammation of the pilosebaceous unit resulting from bacterial colonization of hair follicles by Propionibacterium acnes, androgen-induced increased sebum production, altered keratinization and inflammation. Here, we review our current understanding of the genetic architecture of this intriguing disease. We analysed genomewide association studies (GWAS) and candidate genes studies for acne vulgaris. Moreover, we included GWAS studies for the associated disease polycystic ovary syndrome (PCOS). Overall, the available data revealed sixteen genetic loci flagged by single nucleotide polymorphisms (SNPs), none of which has been confirmed yet by independent studies. Moreover, a GWAS for PCOS identified 21 susceptible loci. The genetic architecture is complex which has been revealed by GWAS. Further and larger studies in different populations are required to confirm or disprove results from candidate gene studies as well to identify signals that may overlap between different populations. Finally, studies on rare genetic variants in acne and associated diseases like PCOS may deepen our understanding of its pathogenesis.

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Section: Genes and Loci Involved In Acnementioning

confidence: 82%

“…Concurrent nodulocystic acne and XYY genotype have been observed by several investigators. [146][147][148] Two case reports demonstrated the association of trisomy 8 and trisomy 13 mosaicism with severe facial acne. Thus, chromosomal abnormalities other than Y chromosome excess may be able to trigger acne.…”

Section: Xxy Trisomy 8 Trisomy 13mentioning

confidence: 99%