Syndrome des comédons familiaux isolés multiples et mutation de PEN-2

Dereure, O.

doi:10.1016/j.annder.2015.12.005

Cited by 2 publications

(1 citation statement)

References 1 publication

Supporting

Mentioning

Contrasting

Order By: Relevance

“…[9] then reported more families and extended the familial comedones spectrum to include multiple severe inflammatory lesions and scars together with generalized comedones. Interestingly, using whole-genome linkage analysis and whole-exome sequencing in this family, a heterozygous one-base pair insertion, 84_85insT (p.L28FfsX93) in PSENEN gene was identified,[10] which shared the same causative gene in AI and the present cases. According to the overlapping clinical and genetic findings, we suggest that AI and familial comedones should be regarded as a spectrum disorder with different clinical variations.…”

Section: Discussionmentioning

confidence: 98%

Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease

Zhou

Guo

Soe

et al. 2016

Chinese Medical Journal

View full text Add to dashboard Cite

Background:Acne inversa (AI), also called hidradenitis suppurativa, is a chronic, inflammatory, recurrent skin disease of the hair follicle. Familial AI shows autosomal-dominant inheritance caused by mutations in the γ-secretase genes. This study was aimed to identify the specific mutations in the γ-secretase genes in two Chinese families with AI.Methods:In this study, two Chinese families with AI were investigated. All the affected individuals in the two families mainly manifested with multiple comedones, pitted scars, and a few inflammatory nodules on their face, neck, trunk, axilla, buttocks, upper arms, and thighs. Reticulate pigmentation in the flexures areas resembled Dowling-Degos disease clinically and pathologically. In addition, one of the affected individuals developed anal canal squamous cell carcinoma. Molecular mutation analysis of γ-secretase genes including PSENEN, PSEN1, and NCSTN was performed by polymerase chain reaction and direct DNA sequencing.Results:Two novel mutations of PSENEN gene were identified, including a heterozygous missense mutation c.194T>G (p.L65R) and a splice site mutation c.167-2A>G.Conclusions:The identification of the two mutations could expand the spectrum of mutations in the γ-secretase genes underlying AI and provide valuable information for further study of genotype-phenotype correlations.

show abstract

Section: Discussionmentioning

confidence: 98%

Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease

Zhou

Guo

Soe

et al. 2016

Chinese Medical Journal

View full text Add to dashboard Cite

show abstract

Intra- and Interfamilial Phenotype Variability Associated with Mutations in γ-Secretase Subunit-Encoding PSENEN

Frank

Ralser

Betz

2018

Journal of Investigative Dermatology

View full text Add to dashboard Cite

Our study confirms increased concentrations of CXCL9 and CXCL10 in morphea serum and correlation of CXCL9 to mLoSSI, a validated measure for disease activity. In addition to that, we also observe correlation between CXCL10 and mLoSSI. Our analysis demonstrates no relations between the presence of disease damage, captured by the Localized Scleroderma Damage Index score, and both CXCL9 and CXCL10. Torok et al. (2015) reported a similar correlation (r s ¼ 0.34) between CXCL10 and mLoSSI and no significant correlation between CXCL10 and Localized Scleroderma Damage Index scores in cohort of 69 pediatric morphea patients (Torok et al., 2015). The strong correlation between CXCL9 and CXCL10 serum concentrations combined with the similar trends in correlations between clinical measures and both chemokines, suggest equal biomarker capabilities for both CXCL9 and CXCL10.Furthermore, we demonstrate increased CXCL9 and CXCL10 gene expression at both the inflammatory border and the sclerotic center of affected morphea tissue, with normal gene expression at unaffected tissue of morphea patients. A strong correlation between CD68 and CXCL9 and CXCL10 gene expression, together with the lack of an association between circulating monocytes, and these chemokines not only suggests a relationship between the presence of local macrophages and CXCL9/CXCL10 production, it also underscores that morphea is a disease confined to the skin where inflammatory markers are measured in the circulation as the result from "leakage" from the inflammatory sites.In conclusion, we confirm the potential of CXCL9 as biomarker for disease activity in morphea. Interestingly, CXCL10 serum concentrations showed similar biomarker capabilities. Lastly, increased CXCL9 and CXCL10 gene expression in morphea skin, and absence of increased gene expression in monocytes, supports the hypothesis, postulated by O'Brien et al. (2017), that morphea may result from skin-directed immune dysregulation rather than the systemic presence of inflammation on contrast to that observed in systemic scleroderma.

show abstract

Syndrome des comédons familiaux isolés multiples et mutation de PEN-2

Cited by 2 publications

References 1 publication

Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease

Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease

Intra- and Interfamilial Phenotype Variability Associated with Mutations in γ-Secretase Subunit-Encoding PSENEN

Contact Info

Product

Resources

About