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Acne inversa

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https://www.readbyqxmd.com/read/28287404/mutations-in-%C3%AE-secretase-subunit-encoding-psenen-underlie-dowling-degos-disease-associated-with-acne-inversa
#1
Damian J Ralser, F Buket Ü Basmanav, Aylar Tafazzoli, Jade Wititsuwannakul, Sarah Delker, Sumita Danda, Holger Thiele, Sabrina Wolf, Michélle Busch, Susanne A Pulimood, Janine Altmüller, Peter Nürnberg, Didier Lacombe, Uwe Hillen, Jörg Wenzel, Jorge Frank, Benjamin Odermatt, Regina C Betz
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...
March 13, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28256718/lipocalin-2-is-expressed-by-activated-granulocytes-and-keratinocytes-in-affected-skin-and-reflects-disease-activity-in-acne-inversa-hidradenitis-suppurativa
#2
K Wolk, J Wenzel, A Tsaousi, E Witte-Händel, N Babel, C Zelenak, H-D Volk, W Sterry, S Schneider-Burrus, R Sabat
BACKGROUND: Acne inversa (AI)/Hidradenitis suppurativa is a chronic inflammatory disease characterized by painful axillary, inguinal, and perianal skin lesions with deep-seated nodules, abscesses, and fistulae. OBJECTIVES: This study aimed at the identification and characterization of key players in AI pathogenesis. METHODS: Epidemiologic and anamnestic data as well as blood and skin samples of AI patients were collected. Healthy participants and psoriasis patients served as controls...
March 3, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/27976439/prospective-multicentre-cohort-study-on-9154-surgical-procedures-to-assess-the-risk-of-postoperative-bleeding-a-dessi-study
#3
W Koenen, C Kunte, D Hartmann, H Breuninger, M Moehrle, F G Bechara, H J Schulze, A Lösler, C R Löser, T Wetzig, D Pappai, S Rapprich, C Weiß, J Faulhaber
BACKGROUND: To date, there is still a debate how to deal with patients receiving antithrombotic agents prior to surgical procedures on the skin. OBJECTIVE: To prospectively assess complications after dermatosurgical interventions, especially bleeding, depending on anticoagulation therapy. METHODS: Patients underwent surgery consecutively as scheduled, without randomization, whether or not they were currently taking anticoagulants. Nine institutions of the DESSI (DErmatoSurgical Study Initiative) working group documented patient data prospectively on a standardized study sheet prior to and after 9154 dermatosurgical interventions...
December 15, 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/27900998/novel-mutations-in-psenen-gene-in-two-chinese-acne-inversa-families-manifested-as-familial-multiple-comedones-and-dowling-degos-disease
#4
Cheng Zhou, Guang-Dong Wen, Lwin Myint Soe, Hong-Jun Xu, Juan Du, Jian-Zhong Zhang
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...
2016: Chinese Medical Journal
https://www.readbyqxmd.com/read/27882387/bacterial-colonization-in-hidradenitis-suppurativa-acne-inversa-a-cross-sectional-study-of-50-patients-and-review-of-the-literature
#5
Georgios Nikolakis, Aikaterini I Liakou, Stefanos Bonovas, Holger Seltmann, Nikolaos Bonitsis, Olivier Join-Lambert, Thomas Wild, Ioannis Karagiannidis, Silvia Zolke-Fischer, Klaus Langner, Christos C Zouboulis
It is unclear whether bacterial colonization in hidradenitis suppurativa/acne inversa (HS) comprises a primary cause, triggering factor or secondary phenomenon of the disease pathogenesis. Furthermore, the connection between certain bacterial species, the disease severity and its localization is unknown. Bacterial species were isolated from HS lesions to reveal a potential correlation with localization and disease severity. Ninety swab tests were prospectively obtained from 90 HS lesions of 50 consecutive patients...
November 24, 2016: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/27862787/two-diseases-one-remedy-systemic-amyloidosis-secondary-to-hidradenitis-suppurativa-treatment-with-infliximab
#6
İlkay Özer, Cengiz Karaçin, Esra Adışen, Galip Güz, Mehmet Ali Gürer
Hidradenitis suppurativa, known as acne inversa, is a relapsing and chronic inflammatory skin disease affecting the skin folds. During the chronic course of the disease many local complications like fistulae to other tissues or systemic complications including anemia, secondary amyloidosis, lymphedema, nephrotic syndrome, artropathy may take place. Amyloid A amyloidosis is a rare complication of hidradenitis suppurativa, which has been described in a limited number of case reports. Herein, we present such a patient that had developed AA amyloidosis during the course of hidradenitis suppurativa...
November 12, 2016: Dermatologic Therapy
https://www.readbyqxmd.com/read/27843200/mmp8-is-increased-in-lesions-and-blood-of-acne-inversa-patients-a-potential-link-to-skin-destruction-and-metabolic-alterations
#7
Athanasia Tsaousi, Ellen Witte, Katrin Witte, Hans-Joachim Röwert-Huber, Hans-Dieter Volk, Wolfram Sterry, Kerstin Wolk, Sylke Schneider-Burrus, Robert Sabat
Acne inversa (AI; also designated as hidradenitis suppurativa) is a chronic inflammatory disease with still unknown pathogenesis that affects the intertriginous skin of perianal, inguinal, and axillary sites. It leads to painful nodules, abscesses, and fistulas with malodorous secretion and is frequently associated with metabolic alterations. Here, we demonstrate that one of the most highly upregulated molecules in AI lesions is matrix metalloproteinase 8 (MMP8), an enzyme specialized in the degradation of extracellular matrix components and the HDL component apolipoprotein A-I...
2016: Mediators of Inflammation
https://www.readbyqxmd.com/read/27741335/adalimumab-treatment-in-women-with-moderate-to-severe-hidradenitis-suppurativa-from-the-placebo-controlled-portion-of-a-phase-2-randomized-double-blind-study
#8
Alice Gottlieb, Alan Menter, April Armstrong, Christopher Ocampo, Yihua Gu, Henrique D Teixeira
BACKGROUND: Hidradenitis Suppurativa (HS), also known as acne inversa, is a painful, chronic, debilitating, inflammatory skin disease and has shown response to anti-TNF-α therapy. Efficacy and safety of the anti-TNF-α agent, adalimumab, was assessed in a post hoc analysis of women from the first 16 weeks of a phase 2 study of men and women with HS. METHODS: Patients with moderate-to-severe HS in at least 2 body areas, unresponsive or intolerant to oral antibiotics for treatment of their HS, and with no previous anti-TNF-a or systemic non-biologic treatment, were randomized 1:1:1 to 40 mg adalimumab-weekly or every-other-week, or placebo...
October 1, 2016: Journal of Drugs in Dermatology: JDD
https://www.readbyqxmd.com/read/27622389/should-hidradenitis-suppurativa-acne-inversa-best-be-renamed-as-dissecting-terminal-hair-folliculitis
#9
WenChieh Chen, Gerd Plewig
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 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...
September 13, 2016: Experimental Dermatology
https://www.readbyqxmd.com/read/27531618/adalimumab-for-the-treatment-of-hidradenitis-suppurativa-acne-inversa
#10
Christos C Zouboulis
INTRODUCTION: Hidradenitis suppurativa/acne inversa (HS) is a chronic, inflammatory, recurrent, debilitating skin disease of the hair follicle that usually presents after puberty with painful, deep-seated, inflamed lesions in the apocrine gland-bearing areas of the body, most commonly the axillae, inguinal and anogenital regions. A mean disease incidence of 6.0 per 100,000 persons-years and a varying prevalence of 0.05-1% have been reported worldwide. AREAS COVERED: This manuscript summarizes the current evidence on chemistry, pharmacodynamics, pharmacokinetics, as well as clinical efficacy, safety and tolerability of the currently approved biologic drug adalimumab in the treatment of active moderate to severe HS in adults...
October 2016: Expert Review of Clinical Immunology
https://www.readbyqxmd.com/read/27495143/comorbidities-treatment-and-outcome-in-severe-anogenital-inverse-acne-hidradenitis-suppurativa-a-15-year-single-center-report
#11
Uwe Wollina, Dana Langner, Birgit Heinig, Andreas Nowak
BACKGROUND: Acne inversa (hidradentitis suppurativa; AI) is a severe chronic relapsing inflammatory skin disease of unknown cause. Anogenital AI has the strongest negative impact on quality of life and causes great disability. OBJECTIVES: We analyzed patients, comorbities, outcome of extensive surgery, and possible adverse effects. PATIENTS AND METHODS: We included patients from January 2000 to March 2015 with anogenital AI Hurley grade III...
January 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/27424511/-emotions-and-bodily-experience-in-hidradenitis-suppurative-acne-inversa
#12
S Tugnoli, V Bettoli, C Agnoli, S Caracciolo
Hidradenitis Suppurative-Acne Inversa is one of the most debilitating chronic skin diseases. It seriously affects the emotional and relational life of the patient, it has a significant psychiatric comorbidity and it impairs the quality of life. We present the report of a clinical situation with onset of the illness in a young woman during pregnancy, a case characterized by particular evolution, severe systemic involvement, strong psycho-emotional impact on the patient and impairment of subjective well-being of the caregiver...
May 2016: La Clinica Terapeutica
https://www.readbyqxmd.com/read/27294593/hidradenitis-suppurativa-acne-inversa-an-endocrine-skin-disorder
#13
REVIEW
Ioannis Karagiannidis, Georgios Nikolakis, Robert Sabat, Christos C Zouboulis
Hidradenitis suppurativa / acne inversa (HS) is a chronic inflammatory, debilitating skin disorder with a largely unknown etiology. However, many observations such as the typical onset of the disease after puberty, the female predominance, the pre-menstrual flare ups and the improvement during pregnancy suggest a contribution of endocrinological factors to the emergence of the disease. In addition, the reported efficacy of anti-androgen treatment on HS indicates a possible involvement of androgens in the pathogenesis...
September 2016: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/27176082/hidradenitis-suppurativa-acne-inversa-like-lesions-complicating-naevus-comedonicus-second-case-supporting-the-mechanical-stress-as-a-triggering-factor
#14
Vincenzo Bettoli, Giulia Toni, Michela Ricci, Stefania Zauli, Annarosa Virgili
No abstract text is available yet for this article.
June 2016: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/27164300/high-copy-numbers-of-%C3%AE-defensin-cluster-on-8p23-1-confer-genetic-susceptibility-and-modulate-the-physical-course-of-hidradenitis-suppurativa-acne-inversa
#15
Evangelos J Giamarellos-Bourboulis, Matthias Platzer, Ioannis Karagiannidis, Theodora Kanni, Georgios Nikolakis, Jens Ulrich, Michael Bellutti, Harald Gollnick, Michael Bauer, Christos C Zouboulis, Klaus Huse
Hidradenitis suppurativa/acne inversa (HS) has a multifactorial pathogenesis, with many patients reporting positive family history. Nine β-defensin genes (among them DEFB4 and DEFB103, encoding for proinflammatory mediators human β-defensin-2 and human β-defensin-3, respectively) exist as a cluster (DEFB) affected by copy number (CN). We hypothesized that CNs are greater in patients with HS and that they are linked to genetic susceptibility. CNs of DEFB were studied in two independent patient cohorts: 163 patients from Greece and 98 from Germany...
August 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/27098992/psenen-c-66delg-in-sporadic-acne-inversa
#16
Yuan Liu, Ting Miao, Jingyue Ma, Lili Shao, Suju Luo, Yan Li, Quanzhong Liu
No abstract text is available yet for this article.
June 1, 2016: European Journal of Dermatology: EJD
https://www.readbyqxmd.com/read/27068603/oral-clindamycin-and-rifampicin-in-the-treatment-of-hidradenitis-suppurativa-acne-inversa-can-some-factors-influence-the-response-to-the-treatment
#17
Vincenzo Bettoli, Stefania Zauli, Anna Virgili
No abstract text is available yet for this article.
April 2016: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/27002572/beyond-the-tip-of-the-iceberg-the-role-of-phosphoinositide-3-kinase-akt-in-acne-inversa-hidradenitis-suppurativa
#18
COMMENT
J W Frew
No abstract text is available yet for this article.
March 2016: British Journal of Dermatology
https://www.readbyqxmd.com/read/26831295/evidence-based-approach-to-the-treatment-of-hidradenitis-suppurativa-acne-inversa-based-on-the-european-guidelines-for-hidradenitis-suppurativa
#19
REVIEW
Wayne Gulliver, Christos C Zouboulis, Errol Prens, Gregor B E Jemec, Thrasivoulos Tzellos
Hidradenitis suppurativa/acne inversa (HS) is a chronic inflammatory skin disease characterized by painful, recurrent nodules and abscesses that rupture and lead to sinus tracts and scarring. To date, an evidence-based therapeutic approach has not been the standard of care and this is likely due to the lack of evidence based treatment guidelines. The purpose of this study was to promote a holistic evidence-based approach which implemented Level of Evidence and Strength of Recommendation for the treatment of HS...
September 2016: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/26794625/results-of-combined-vascular-reconstruction-by-means-of-av-loops-and-free-flap-transfer-in-patients-with-soft-tissue-defects
#20
Alexander Meyer, Raymund E Horch, Elisabeth Schoengart, Justus P Beier, Christian D Taeger, Andreas Arkudas, Werner Lang
PURPOSE: Free flap transplantation to vascular reconstructions as arteriovenous (AV) loops has been established in centers as a feasible therapeutic option for defect reconstruction in the absence of proper recipient vessels, caused by oncologic resections, radiation, or trauma. We report our 10-year experience in free flap transplantation after vascular reconstruction with special emphasis on complication rate and postoperative mobility. PATIENTS AND METHODS: Forty-seven patients (mean age: 60 years, range: 19-86) were included...
April 2016: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS
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