A Case Report of Inversa Acne and Evaluation for Mutations in the NCSTN, PSENEN, and PSEN1 Genes.
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ABSTRACT:
SUBMITTER: Guo BR
PROVIDER: S-EPMC4960970 | biostudies-literature | 2016 Jul
REPOSITORIES: biostudies-literature
Publications
A Case Report of Inversa Acne and Evaluation for Mutations in the NCSTN, PSENEN, and PSEN1 Genes.
Guo Bi-Rong BR Li Cong-Sheng CS Zhu Qi-Ming QM Xu Kang K Pan Wei W Jiang Peng P
Chinese medical journal 20160701 14
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Project description:Acne inversa is a chronic inflammatory follicular disease with autosomal dominant inheritance. In recent years, many functional mutations in the NCSTN genes have been identified as the cause of familial acne inversa. Herein, we recruited four patients and seven unaffected individuals from a Chinese family and performed Sanger sequencing of the NCSTN gene. One novel frameshift mutation, c.450_459del (p.Ser 151GlnfsX48), was identified in exon 5 of the NCSTN gene. Three normal-looking children carrying the mutation were proven to be patients. We also presented a literature review from previous studies of acne inversa, suggesting that NCSTN is a hotspot gene for acne inversa. Most affected individuals experienced onset in adolescence. We confirmed the diagnosis in this family based on the mutation. This finding will help expound the relationship between the NCSTN gene and the pathogenesis of acne inversa and emphasize the value of genetic diagnosis in monogenic disorder.
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Project description:To elucidate the relationship between NCSTN mutations and familial AI pathogenesis by investigating differential gene expression, we have employed transcriptome sequencing profiling as a discovery platform to identify genes with the potential to be involved in familial AI pathogenesis. Skin biopsies were obtained from the lesions of AI patients with NCSTN mutations . Control skin tissues were obtained from healthy individuals undergoing cosmetic surgery procedures
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Project description:Comorbidities of hidradenitis suppurativa (acne inversa) were reviewed by extracting original and review publications included in MEDLINE, EMBASE and COCHRANE libraries using the terms "hidradenitis," "Verneuil" and "acne inversa." Follicular occlusion disorders, inflammatory bowel diseases, especially Crohn disease, spondylarthropathy, other hyperergic diseases, genetic keratin disorders associated with follicular occlusion and squamous cell carcinoma were the most common hidradenitis suppurativa comorbid diseases. A first classification of these major comorbidities and their possible genetic background reveals a list of chromosome loci and genes, which could be hidradenitis suppurativa candidates. Most of these diseases belong to the group of autoinflammatory disorders, where th17 cell cytokines seem to play a central role.
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Project description:Dowling-Degos disease (DDD) is an autosomal-dominant disorder of skin pigmentation associated with mutations in keratin 5 (KRT5), protein O-fucosyltransferase 1 (POFUT1), or protein O-glucosyltransferase 1 (POGLUT1). Here, we have identified 6 heterozygous truncating mutations in PSENEN, encoding presenilin enhancer protein 2, in 6 unrelated patients and families with DDD in whom mutations in KRT5, POFUT1, and POGLUT1 have been excluded. Further examination revealed that the histopathologic feature of follicular hyperkeratosis distinguished these 6 patients from previously studied individuals with DDD. Knockdown of psenen in zebrafish larvae resulted in a phenotype with scattered pigmentation that mimicked human DDD. In the developing zebrafish larvae, in vivo monitoring of pigment cells suggested that disturbances in melanocyte migration and differentiation underlie the DDD pathogenesis associated with PSENEN. Six of the PSENEN mutation carriers presented with comorbid acne inversa (AI), an inflammatory hair follicle disorder, and had a history of nicotine abuse and/or obesity, which are known trigger factors for AI. Previously, PSENEN mutations were identified in familial AI, and comanifestation of DDD and AI has been reported for decades. The present work suggests that PSENEN mutations can indeed cause a comanifestation of DDD and AI that is likely triggered by predisposing factors for AI. Thus, the present report describes a DDD subphenotype in PSENEN mutation carriers that is associated with increased susceptibility to AI.
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Project description:miRNA expression signatures of acne inversa (AI) patients with NCSTN mutations and healthy individuals
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Project description:We present a 55-year-old male patient - a smoker, admitted to a Medical Institute of MVR (Ministry of the interior, Sofia, Bulgaria), on occasion of pain and swellings, located in the area of both axillae, accompanied by purulent discharge, with bloody admixtures. Bilateral localised cystic rose above the skin surface, hyperpigmented nodules interconnected with multiple fistulas, was observed within the dermatological examination, resulting in a limitation of the possibility of movement of the hands in all directions. A subjective complaint of pain was obtained on palpation. Solid bilateral axillar cicatrices - formation was also established, which additional impeded the movements of the upper limbs. The disease was generalised affecting additional inguinal, femoral and perineal areas, while at this stage the patient refused categorically eventual photo documentation of them. The diagnosis of acne inversa was made based on the available clinical and para-clinical data, as dual antibiotic therapy with Clindamycin 300 mg, two times per day was initiated for two months, in combination with rifampicin 300 mg, two times per day also for two months. This led to a significant improvement in the clinic symptoms and the patient was hospitalised for radical surgery. A surgical management of the clinical findings was planned by an interdisciplinary team including surgeons and dermatologists. The procedure was performed under general anaesthesia. After a thorough cleaning of the operative field, a radical excision of the lesion in the left axillary and para axillar region was performed, comprising the skin and subcutaneous tissue forward the fascia pectoralis. Tissue was dissected in depth in the form of number 4, thereby creating the conditions for adaptation of the initially encountered communicating with each other skin defects. Two tubular drains were placed, followed by gradual suturing of skin and subcutaneous tissue with final applying of a sterile dressing. Effective medical treatment of patients (as in our case) with severe AI is limited. Adalimumab is the first biological approved for moderate to severe AI but does not result in stable CR (cure rate). Therefore its use in a neoadjuvant setting is under investigation. Wide local excision significantly reduces pain and improves the quality of life of AI patients. While local recurrences rate is low, the satisfaction with the cosmetic results is high. The recurrence rate is dependent on the region affected and the type of surgery. While in the axillary region primary closure may be used to reduce the time to healing, anogenital AI has the lowest recurrence rate of healing by secondary intention.
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Project description:BackgroundAcne inversa (AI; also designated as Hidradenitis suppurativa) is a common chronic inflammatory skin disease, localized in the axillary, inguinal and perianal skin areas that causes painful, fistulating sinuses with malodorous purulence and scars. Several chronic inflammatory diseases are associated with the metabolic syndrome and its consequences including arteriosclerosis, coronary heart disease, myocardial infraction, and stroke. So far, the association of AI with systemic metabolic alterations is largely unexplored.Methods and findingsA hospital-based case-control study in 80 AI patients and 100 age- and sex-matched control participants was carried out. The prevalence of central obesity (odds ratio 5.88), hypertriglyceridemia (odds ratio 2.24), hypo-HDL-cholesterolemia (odds ratio 4.56), and hyperglycemia (odds ratio 4.09) in AI patients was significantly higher than in controls. Furthermore, the metabolic syndrome, previously defined as the presence of at least three of the five alterations listed above, was more common in those patients compared to controls (40.0% versus 13.0%; odds ratio 4.46, 95% confidence interval 2.02 to 9.96; P<0.001). AI patients with metabolic syndrome also had more pronounced metabolic alterations than controls with metabolic syndrome. Interestingly, there was no correlation between the severity or duration of the disease and the levels of respective parameters or the number of criteria defining the metabolic syndrome. Rather, the metabolic syndrome was observed in a disproportionately high percentage of young AI patients.ConclusionsThis study shows for the first time that AI patients have a high prevalence of the metabolic syndrome and all of its criteria. It further suggests that the inflammation present in AI patients does not have a major impact on the development of metabolic alterations. Instead, evidence is given for a role of metabolic alterations in the development of AI. We recommend monitoring of AI patients in order to correct their modifiable cardiovascular risk factors.
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Project description: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 ?-secretase genes. This study was aimed to identify the specific mutations in the ?-secretase genes in two Chinese families with AI.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 ?-secretase genes including PSENEN, PSEN1, and NCSTN was performed by polymerase chain reaction and direct DNA sequencing.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.The identification of the two mutations could expand the spectrum of mutations in the ?-secretase genes underlying AI and provide valuable information for further study of genotype-phenotype correlations.
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Project description:Transcriptome of skin from Acne inversa lesions show specific alterations compared to healthy donor skin.
2020-11-03 | GSE122592 | GEO