keyword
https://read.qxmd.com/read/30544224/analysis-of-hidradenitis-suppurativa-linked-mutations-in-four-genes-and-the-effects-of-psen1-p242lfsx11-on-cytokine-and-chemokine-expression-in-macrophages
#61
Airong Li, Yang Peng, Lauren M Taiclet, Rudolph E Tanzi
Hidradenitis suppurativa (HS), or acne inversa, is a chronic inflammatory skin disorder characterized clinically with acne-like lesions in apocrine gland-bearing skin, follicular occlusion and recurrent inflammation. Thirty-four unique mutations in patients with HS have been found in three genes encoding the γ-secretase complex: nicastrin (NCSTN), presenilin 1 (PSEN1), presenilin enhancer 2 (PSENEN) and in POGLUT1, an endoplasmic reticulum (ER) O-glucosyltransferase involved in Notch signaling. We have carried out a system review and have performed a functional analysis of the 34 unique reported HS-linked mutations in NCSTN, PSEN1, PSENEN and POGLUT1...
December 13, 2018: Human Molecular Genetics
https://read.qxmd.com/read/30528824/the-il-1-pathway-is-hyperactive-in-hidradenitis-suppurativa-and-contributes-to-skin-infiltration-and-destruction
#62
Ellen Witte-Händel, Kerstin Wolk, Athanasia Tsaousi, Marie Luise Irmer, Rotraut Mößner, Orr Shomroni, Thomas Lingner, Katrin Witte, Desiree Kunkel, Gabriela Salinas, Stefan Jodl, Nicole Schmidt, Wolfram Sterry, Hans-Dieter Volk, Evangelos J Giamarellos-Bourboulis, Anna Pokrywka, Wolf-Dietrich Döcke, Sylke Schneider-Burrus, Robert Sabat
Hidradenitis suppurativa (HS) (also designated acne inversa) is a chronic inflammatory disease characterized by painful purulent skin lesions and progressive destruction of skin architecture. Despite the high burden for the patients, pathogenetic pathways underlying HS alterations remain obscure. When we examined the HS cytokine pattern, IL-1β turned out to be a highly prominent cytokine, overexpressed even compared with psoriatic lesions. Analyses of IL-1β-induced transcriptome in various cell types showed overlapping profiles, with upregulations of molecules causing immune cell infiltration and extracellular matrix degradation, and of specific cytokines including IL-6, IL-32, and IL-36...
June 2019: Journal of Investigative Dermatology
https://read.qxmd.com/read/30468376/multidisciplinary-approach-for-hidradenitis-suppurativa-patients
#63
Stefano Veraldi, Elena Guanziroli, Valentina Benzecry, Gianluca Nazzaro
Hidradenitis suppurativa or acne inversa is an inflammatory, chronic disease of the hair follicles located in specific areas of the skin surface (axillae, submammary, inguinal and intergluteal folds, pubis, genitalia and buttocks). The diagnosis and the management of this disease are usually made by the dermatologist. However, the frequent association of hidradenitis suppurativa or acne inversa with important systemic comorbidities needs the cooperation with a number of specialists. In particular, the cooperation with rheumatologists, gastroenterologists, endocrinologists, microbiologists/infectivologists, psychologists/psychiatrics and plastic surgeons is often helpful or necessary...
June 2018: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://read.qxmd.com/read/30375207/patient-reported-outcomes-in-hidradenitis-suppurativa-a-review
#64
Gautham Vellaichamy, Taylor L Braunberger, Jessica L Jones, Anjelica Peacock, Amanda F Nahhas, Iltefat H Hamzavi
Hidradenitis suppurativa, also known as acne inversa, is a chronic recurrent inflammatory disease of the skin making management challenging and continuously evolving. A large number of modalities exist aimed at quantifying the efficacy of treatment in studies on hidradenitis suppurativa. Both physician-reported and patient-reported outcomes are used as endpoints in these studies; however, the vast majority of the modalities used to survey these reported outcomes lack validation and congruence between studies...
October 29, 2018: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://read.qxmd.com/read/30368496/standardized-photographic-documentation-of-hidradenitis-suppurativa-acne-inversa
#65
Christos C Zouboulis, André Nogueira da Costa
BACKGROUND: Despite existing guidelines and methods for standardized clinical photography in dermatology and plastic surgery, human skin exhibits exquisite site-specific morphologies and functions, and each body region can exhibit an individual pathologic phenotype. The aim of this work was to develop a standardized, representative and reproducible documentation of the multilocular hidradenitis suppurativa/acne inversa (HS) lesions, a disease mostly occurring in skin folds. METHOD: Optimal body positions for medical photography of candidate areas for HS involvement were evaluated...
2019: Dermatology: International Journal for Clinical and Investigative Dermatology
https://read.qxmd.com/read/30188033/-what-s-new-in-the-treatment-of-suppurative-hidradenitis-in-2018
#66
REVIEW
G Giet, E Lebas, F Libon, B Dezfoulian, A F Nikkels
Hidradenitis suppurativa (HS), also known as Verneuil's disease and acne inversa, is a chronic inflammatory skin disease characterized by a dysfunction of the pilosebaceous structures resulting in occlusion and inflammation. The disease usually starts after puberty, on average between twenty and thirty years, with subcutaneous painful inflammatory nodules, abscess collections, fistulization and scars mainly in the axillary, inguinal, sub-mammary, perineal and perianal regions. It is a multifactorial disease with the most commonly cited risk factors or aggravating factors being smoking, obesity, and HS family history...
September 2018: Revue Médicale de Liège
https://read.qxmd.com/read/30176066/hidradenitis-suppurativa-acne-inversa-a-practical-framework-for-treatment-optimization-systematic-review-and-recommendations-from-the-hs-alliance-working-group
#67
C C Zouboulis, F G Bechara, J L Dickinson-Blok, W Gulliver, B Horváth, R Hughes, A B Kimball, B Kirby, A Martorell, M Podda, E P Prens, H C Ring, T Tzellos, H H van der Zee, K R van Straalen, A R J V Vossen, G B E Jemec
Hidradenitis suppurativa (HS)/acne inversa is a debilitating chronic disease that remains poorly understood and difficult to manage. Clinical practice is variable, and there is a need for international, evidence-based and easily applicable consensus on HS management. We report here the findings of a systematic literature review, which were subsequently used as a basis for the development of international consensus recommendations for the management of patients with HS. A systematic literature review was performed for each of nine clinical questions in HS (defined by an expert steering committee), covering comorbidity assessment, therapy (medical, surgical and combinations) and response to treatment...
January 2019: Journal of the European Academy of Dermatology and Venereology: JEADV
https://read.qxmd.com/read/30168900/dissecting-folliculitis-dissecting-cellulitis-of-the-scalp-a-66-patient-case-series-and-proposal-of-classification
#68
Chaw-Ning Lee, WenChieh Chen, Chao-Kai Hsu, Tzu-Teng Weng, Julia Yu-Yun Lee, Chao-Chun Yang
BACKGROUND AND OBJECTIVES: Dissecting folliculitis (DF) or dissecting cellulitis of the scalp is regarded as a rare disease with disfiguring scarring alopecia. This study aimed to analyze the features of DF and to propose a classification to define its severity. PATIENTS AND METHODS: A hospital-based retrospective study was conducted. Patients with a histopathological diagnosis or clinical features leading to diagnosis of DF were included and classified into three stages...
October 2018: Journal der Deutschen Dermatologischen Gesellschaft: JDDG
https://read.qxmd.com/read/30120935/nicastrin-mir-30a-3p-rab31-axis-regulates-keratinocyte-differentiation-by-impairing-egfr-signaling-in-familial-acne-inversa
#69
Yanyan He, Haoxiang Xu, Chengrang Li, Xiaofeng Zhang, Pengjun Zhou, Xuemin Xiao, Wanlu Zhang, Yingda Wu, Rong Zeng, Baoxi Wang
Nicastrin (NCSTN) mutations are associated with familial acne inversa (AI), and emerging evidences suggest that microRNAs (miRNAs) are involved in various skin diseases. However, whether NCSTN mutations affect miRNA levels and their subsequent signaling pathways in familial AI patients has not been studied. We aimed to elucidate the relationship between NCSTN mutations and familial AI pathogenesis by investigating differential miRNA expression and their related pathways. Combined with miRNA microarray data from familial AI patients, Ncstn keratinocyte-specific-knockout (NcstnΔKC ) mice and bioinformatics predictions showed that NCSTN mutations led to decreased miR-30a-3p levels, which negatively regulated RAB31 expression...
August 16, 2018: Journal of Investigative Dermatology
https://read.qxmd.com/read/30105992/mutations-in-the-%C3%AE-secretase-genes-psen1-psenen-and-ncstn-in-a-family-with-acne-inversa
#70
Tian-Wei Shi, Nan Bai, Jiang-An Zhang, Feng Lu, Xiao-Bing Chen, Xiang-Dong Kong, Jian-Bin Yu
No abstract text is available yet for this article.
June 1, 2018: European Journal of Dermatology: EJD
https://read.qxmd.com/read/30030622/a-novel-ncstn-gene-mutation-in-a-chinese-family-with-acne-inversa
#71
Chao Wu, Jun Yang, Shiyu Zhang, Jun Li, Hongzhong Jin, Xue Zhang
Acne inversa (AI) is a chronic inflammatory disease of hair follicles. The pathogenesis of AI remains unclear. Haploinsufficiency of genes encoding γ-secretase components is the genetic basis for a subset of familial AI. Idiopathic guttate hypomelanosis (IGH) is a leukoderma characterized by multiple porcelain-white macules. Familial AI associated with IGH has not been reported previously. Herein, we present the pathogenic variation in a Chinese Han family with AI and IGH. Peripheral blood samples were collected from 16 members of the entire family...
December 2018: Molecular Genetics and Genomics: MGG
https://read.qxmd.com/read/29924129/radical-resection-and-local-coverage-of-hidradenitis-suppurativa-acne-inversa-analysis-of-results
#72
Rogério Rafael DA Silva Mendes, Rafael Ferreira Zatz, Miguel Luiz Antonio Modolin, Fábio DE Freitas Busnardo, Rolf Gemperli
OBJECTIVE: to evaluate the primary outcome of local complications and late recurrence in patients with hidradenitis suppurativa undergoing radical resection and specific reconstruction. METHODS: we conducted a retrospective analysis of the medical records of patients attended by the Plastic Surgery Service of the Clinics Hospital, Medical School, USP, between 2010 and 2016. We included patients who underwent radical resection of hidradenitis suppurativa in advanced stage and reconstruction through primary closure, grafts or flaps...
2018: Revista do Colégio Brasileiro de Cirurgiões
https://read.qxmd.com/read/29860040/long-term-adalimumab-efficacy-in-patients-with-moderate-to-severe-hidradenitis-suppurativa-acne-inversa-3-year-results-of-a-phase-3-open-label-extension-study
#73
RANDOMIZED CONTROLLED TRIAL
Christos C Zouboulis, Martin M Okun, Errol P Prens, Robert Gniadecki, Peter A Foley, Charles Lynde, Jamie Weisman, Yihua Gu, David A Williams, Gregor B E Jemec
BACKGROUND: The optimal long-term dosing strategy for adalimumab (ADA) in hidradenitis suppurativa/acne inversa (HS) was evaluated by pooling the results of the PIONEER phase 3 trials and an open-label extension (OLE) study. OBJECTIVE: To assess the response to and tolerability of long-term administration of ADA in HS. METHODS: The durations of the PIONEER I/II periods A, B, and OLE were 12, 24, and 52 or more weeks, respectively. Patients who entered the OLE and received ADA (40 mg every week continuously) and responders plus partial responders (PRRs) were evaluated...
January 2019: Journal of the American Academy of Dermatology
https://read.qxmd.com/read/29709603/photodynamic-therapy-for-hidradenitis-suppurativa-acne-inversa-case-report
#74
Yunjie Zhang, Yuguang Yang, Xianbiao Zou
Hidradenitis suppurativa/acne inversa (HS/AI) is a type of chronic suppurative inflammatory reaction of the hair follicles characterized by recurrent dermal abscesses, sinus tracts and scars. So far, there has not been any prospective study proving the efficacy and safety of photodynamic therapy for the disease. In this report, one case of HS/AI achieved resolution of skin lesions, ulcer healing and disappearance of symptoms after nine treatments with 5-aminolevulinic acid photodynamic therapy (ALA-PDT).
June 2018: Photodiagnosis and Photodynamic Therapy
https://read.qxmd.com/read/29683279/hidradenitis-suppurativa-acne-inversa-a-prospective-bacteriological-study-of-46-patients-and-review-of-the-literature
#75
Valentina Benzecry, Anna Grancini, Elena Guanziroli, Gianluca Nazzaro, Mauro Barbareschi, Angelo V Marzano, Simona Muratori, Stefano Veraldi
BACKGROUND: Hidradenitis suppurativa is a chronic inflammatory disease of the hair follicle that usually involves specific anatomic areas which are partially occluded, have a higher density of eccrine and apocrine sweat glands and a higher pH. These characteristics could promote the superinfection of certain group of bacteria. We aimed to describe the bacteria that can be isolated from hidradenitis lesions and to establish a correlation between bacteriological results and clinical data...
April 19, 2018: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://read.qxmd.com/read/29645385/s1-leitlinie-dermatosen-bei-dermaler-lymphostase
#76
Joachim Dissemond, Finja Jockenhöfer, Anya Miller, Günter Kurzhals, Shahrouz Noori, Stefanie Reich-Schupke, Martin Schlaeger, Erich Schubert, Markus Stücker, Tobias Weberschock, Hans Wilfried Jungkunz
Das Ziel dieser S1-Leitlinie ist es, aktuelles Wissen über dermatologisch relevante Krankheitsbilder bei lokal begrenzter dermaler Lymphostase an allen Lokalisationen des Hautorgans zu vermitteln, um diese frühzeitig zu erkennen, diagnostisch zu sichern und gezielt zu behandeln. Wann immer möglich, sollte diese Therapie anhand klar definierter Algorithmen stadiengerecht erfolgen. Die im klinischen Alltag häufig auftauchenden differenzialdiagnostischen und therapeutischen Fragen lassen eine aktuelle Leitlinie notwendig erscheinen...
April 2018: Journal der Deutschen Dermatologischen Gesellschaft: JDDG
https://read.qxmd.com/read/29573406/t-helper-17-cell-regulatory-t-cell-imbalance-in-hidradenitis-suppurativa-acne-inversa-the-link-to-hair-follicle-dissection-obesity-smoking-and-autoimmune-comorbidities
#77
REVIEW
B C Melnik, S M John, W Chen, G Plewig
BACKGROUND: Disintegration of the infundibula of terminal hair follicles (HFs) in intertriginous skin areas exhibits the histological hallmark of hidradenitis suppurativa (HS)/acne inversa, featuring a dissecting terminal hair folliculitis. Elevated serum levels of interleukin (IL)-17 and local increase in the ratio of proinflammatory T helper (Th)17 cells and anti-inflammatory regulatory T cells (Tregs) have been reported. Perifollicular Tregs play a key role in HF stem cell homeostasis and infundibular integrity...
August 2018: British Journal of Dermatology
https://read.qxmd.com/read/29569780/a-new-nonsense-mutation-in-the-poglut1-gene-in-two-sisters-with-dowling-degos-disease
#78
LETTER
S Duchatelet, H Clerc, L Machet, P Gaboriaud, S Miskinyte, T Kervarrec, A Hovnanian
No abstract text is available yet for this article.
March 23, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
https://read.qxmd.com/read/29497777/-correction-to-drug-therapy-of-acne-inversa
#79
S Schneider-Burrus, E Arpa, C Kors, T Stavermann, R Sabat, G Kokolakis
No abstract text is available yet for this article.
March 2018: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://read.qxmd.com/read/29322225/-surgical-treatment-options-for-hidradenitis-suppurativa-acne-inversa
#80
REVIEW
L Scholl, S Hessam, S Reitenbach, F G Bechara
Hidradenitis suppurativa/acne inversa (HS/AI) is a chronic inflammatory skin disease. Therapy consists of conservative and surgical treatment options. In Hurley stages II and III, surgical intervention is regarded as the method of choice for areas with irreversible tissue destruction. Resection techniques with different grades of invasiveness are described in the literature. Nevertheless, there is no generally accepted concept regarding resection and reconstruction techniques or specific postoperative care...
February 2018: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
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