Phenotype of 53 Chinese individuals with nicastrin gene mutations in association with familial hidradenitis suppurativa (acne inversa)

Xu, Haoxiang; Xiao, Xiuli; Hui, Yun; Zhang, X.; He, Yayi; Li, Changxiao; Wang, B.

doi:10.1111/bjd.14268

Cited by 32 publications

(36 citation statements)

References 3 publications

(7 reference statements)

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“…The retrospective nature with a relatively long period of data collection may result in missing and variable data points. As recent studies have reported mutations in genes coding for the enzyme γ-secretase and its subunits, such as nicastrin (NCSTN) and presenilin (PSENEN), in patients with familial and sporadic HS [10,18], a prospective, larger-scale, population-based study with particular focus on genetic analysis would provide further insights.…”

Section: Discussionmentioning

confidence: 99%

“…HS is thought to be rare among Asians, and a review of the literature on PubMed with the keywords "hidradenitis suppurativa" and "demographics" found only 2 relevant studies reporting the demographics of HS in an Asian population. The first is a study of Japanese patients with HS [9] and the second a Chinese study of familial HS [10].…”

Section: Hidradenitis Suppurativa · Acne Inversa · Asian Population ·mentioning

confidence: 99%

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Hidradenitis Suppurativa: An Asian Perspective from a Singaporean Institute

Choi

Cook

Chandran

2018

Skin Appendage Disord

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Background: Demographic studies of hidradenitis suppurativa (HS) in Western countries have found an association with the female gender and with co-morbidities, such as the metabolic syndrome. There are few studies in an Asian context. Objective: This study examines the characteristics of HS at a Singaporean institute and compares them to those of existing studies in the West. Methods: We report a series of 58 patients with HS seen at the University Dermatological Clinic, National University Hospital, Singapore, over a 13-year period between January 2004 and December 2016. Results: Of 58 patients, 34 were male (58.6%). The axilla was the most common site affected, followed by the groin and buttocks. We did not find significant differences in disease characteristics between males and females, such as disease severity or location of disease. Metabolic co-morbidities were common, although paediatric-onset HS patients were less likely to be overweight, obese or smokers. Conclusion: The higher proportion of male HS patients in our cohort compared to the West may reflect differences in the prevalence of obesity and smoking in the 2 populations. Metabolic co-morbidities were similarly prevalent in both adult and paediatric HS patients. These findings offer insight into the factors influencing the development of HS.

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Section: Discussionmentioning

confidence: 99%

Section: Hidradenitis Suppurativa · Acne Inversa · Asian Population ·mentioning

confidence: 99%

Hidradenitis Suppurativa: An Asian Perspective from a Singaporean Institute

Choi

Cook

Chandran

2018

Skin Appendage Disord

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“…A careful histological examination in the early stage can help. As compared to AC, the non‐hereditary, non‐syndromic DTHF affects mainly Caucasian women (female to male ration 3‐4 to 1) with a close association with smoking and obesity (s18–s20). The seemingly low prevalence of DTHF in China, Japan (s21), Korea and Taiwan might be explained by a generally lower prevalence of hirsutism, obesity, smoking and the use of contraceptives in women from these regions. Moreover, more men are affected than women in these regions, based on the case series reported to date (s22) …”

Section: Clinical Impact Of the Redefinitionsmentioning

confidence: 99%

“…The seemingly low prevalence of DTHF in China, Japan (s21), Korea and Taiwan might be explained by a generally lower prevalence of hirsutism, obesity, smoking and the use of contraceptives in women from these regions. Moreover, more men are affected than women in these regions, based on the case series reported to date (s22) DTHF can occur in prepubertal age, estimated to account for 1% or lower of all affected patients (s23, s24).…”

Section: Clinical Impact Of the Redefinitionsmentioning

confidence: 99%

Should hidradenitis suppurativa/acne inversa best be renamed as “dissecting terminal hair folliculitis”?

Chen

Plewig

2017

Experimental Dermatology

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Hidradenitis suppurativa/acne inversa is a diverse, enigmatic and distressful disease that has aroused growing interest in specialists from different disciplines. Both names describe its classical manifestations in the intertriginous regions and reflect the historical view of the disease definition, but cause confusions in the understanding of its pathogenesis and classification. In the light of the advance in clinical, histopathological and pathophysiological findings, we propose the term "dissecting terminal hair folliculitis" (DTHF) to characterize its disease nature as folliculitis instead of acneiform disease or apocrine gland disorder. DTHF attacks exclusively the terminal hair follicles in an overwhelming majority of adults, initiating from the fragile acroinfundibulum leading to a non-infectious overreaction of innate immunity system with inflammation that may fiercely dissect and engulf all the surrounding tissues accompanied by secondary bacterial infections. Evidence indicates that perifolliculitis capitis abscedens et suffodiens and pilonidal disease are very likely regional variants of DTHF with the same pathogenesis. Treatment of DTHF remains frustrating. The benefit of biologics in targeting inflammation is so far non-specific, palliative and inconsistent. Hair epilation and photodynamic therapy in treatment of the disease is questionable in consideration of the pathogenesis. Genetic and translational research, especially on the Notch signalling pathways, will yield breakthrough in the development of novel treatment modalities. K E Y W O R D Sacne inversa, folliculitis, hair infundibulum, hidradenitis suppurativa, terminal hair follicle 1

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“…Examining the distribution of sequence variants in NCSTN , no predilection could be identified pertaining to any specific protein domain or component of the nicastrin protein. Four of the six identified missense sequence variants were located adjacent to or within the Lid protein domain, which is proposed to be a vital binding site for nicastrin . In fact, the only missense variant with confirmed decreased levels of Notch intracellular domain (ICD) involves a missense mutation in exon 6, within the Lid protein domain .…”

Section: Resultsmentioning

confidence: 99%

A systematic review and critical evaluation of reported pathogenic sequence variants in hidradenitis suppurativa

et al. 2017

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Hidradenitis suppurativa (HS) is a severe chronic inflammatory disorder characterized by recurrent painful deep-seated nodules with a predilection to the apocrine-bearing areas of skin. A minority of cases of HS are due to mutations in the γ-secretase complex. Contention exists surrounding the pathogenicity of sequence variants and their effects upon Notch signalling. This systematic review was registered with PROSPERO (CRD42016041425) and was conducted in line with the PRISMA statement. Eligibility criteria for this review included published case reports, case series and reviews that identified sequence variants or protein or functional studies from patients with HS. Sixty-two articles were identified reporting a total of 41 sequence variants - heterozygous missense (nine), splice site (nine), insertion resulting in frameshift (one), premature termination codon (19) and promoter region PSTPIP1 (three) - with 18 associated protein or functional studies. The American College of Medical Genetics and Genomics standards and guidelines on the interpretation of sequence variants were applied to each identified variant to assess evidence for pathogenicity. Twenty-three variants were assessed as likely pathogenic, 17 of uncertain significance and one benign. The large number of variants of 'uncertain significance' is largely due to the variable number of functional studies. Four studies used Notch as a proxy for γ-secretase function, with conclusions of nonpathogenicity based on the assumption of Notch signalling as the sole pathogenic process. The role of Notch-independent signalling mechanisms requires further research. Limitations to this study include identification of variants of Mendelian inheritance and not complex polygenic traits.

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Phenotype of 53 Chinese individuals with nicastrin gene mutations in association with familial hidradenitis suppurativa (acne inversa)

Cited by 32 publications

References 3 publications

Hidradenitis Suppurativa: An Asian Perspective from a Singaporean Institute

Hidradenitis Suppurativa: An Asian Perspective from a Singaporean Institute

Should hidradenitis suppurativa/acne inversa best be renamed as “dissecting terminal hair folliculitis”?

A systematic review and critical evaluation of reported pathogenic sequence variants in hidradenitis suppurativa

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