scholarly journals Repigmentation of Tenacious Vitiligo on Apremilast

2017 ◽  
Vol 2017 ◽  
pp. 1-3 ◽  
Author(s):  
Sara B. Huff ◽  
Lorie D. Gottwald

Vitiligo is a common pigment disorder characterized by acquired loss of function or absence of melanocytes, leading to distinct areas of depigmentation. Physical exam reveals sharply demarcated, depigmented macules or patches on otherwise normal skin. Vitiligo can present at any age, in any skin color. There is no specific serologic marker for diagnosis, but patients often have other autoimmune problems. Treatment options are limited and are difficult given the fact that the pathogenesis of the disease is not well elucidated. We present the case of a 52-year-old woman with vitiligo for over 2 decades. The patient’s medical history reveals a lack of response to many different approaches. This case highlights the ability of apremilast, an FDA-approved drug for the treatment of psoriasis and psoriatic arthritis, to achieve repigmentation in a case a vitiligo that has been extremely recalcitrant.

2020 ◽  
Vol 16 ◽  
Author(s):  
Daniel Dejcman ◽  
Valentin Sebastian Schäfer ◽  
Dirk Skowasch ◽  
Carmen Pizarro ◽  
Andreas Krause ◽  
...  

: Interstitial lung disease (ILD) is the most common form of pulmonary impairment in patients with rheumatoid arthritis (RA). However, patients with RA or other arthritic diseases such as psoriatic arthritis (PsA) or peripheral spondyloarthritis (pSpA) may develop several other pulmonary diseases such as chronic obstructive lung disease (COPD) with a higher risk than patients without arthritis. The article at hand aims at summarizing the current knowledge on the prevalence of pulmonary diseases in the above-mentioned forms of arthritis, the challenges for prevalence studies and detecting pulmonary diseases in patients with arthritis as well as possible treatment options. Dyspnea, cough or other pulmonary symptoms or findings in arthritis patients should prompt gradual diagnostic procedures considering pulmonary manifestations as a major cluster of differential diagnosis. Considering its poor prognosis and morbidity burden, RA-ILD needs to be ruled out. Treatment of manifestations often lacks solid evidencebased guidelines and referrals to specialized centers are often necessary.


2021 ◽  
Vol 22 (7) ◽  
pp. 3786
Author(s):  
Andreas Brodehl ◽  
Alexey Meshkov ◽  
Roman Myasnikov ◽  
Anna Kiseleva ◽  
Olga Kulikova ◽  
...  

About 50% of patients with arrhythmogenic cardiomyopathy (ACM) carry a pathogenic or likely pathogenic mutation in the desmosomal genes. However, there is a significant number of patients without positive familial anamnesis. Therefore, the molecular reasons for ACM in these patients are frequently unknown and a genetic contribution might be underestimated. Here, we used a next-generation sequencing (NGS) approach and in addition single nucleotide polymor-phism (SNP) arrays for the genetic analysis of two independent index patients without familial medical history. Of note, this genetic strategy revealed a homozygous splice site mutation (DSG2–c.378+1G>T) in the first patient and a nonsense mutation (DSG2–p.L772X) in combination with a large deletion in DSG2 in the second one. In conclusion, a recessive inheritance pattern is likely for both cases, which might contribute to the hidden medical history in both families. This is the first report about these novel loss-of-function mutations in DSG2 that have not been previously identi-fied. Therefore, we suggest performing deep genetic analyses using NGS in combination with SNP arrays also for ACM index patients without obvious familial medical history. In the future, this finding might has relevance for the genetic counseling of similar cases.


2020 ◽  
pp. 1-5
Author(s):  
Pinar Aydin Ozturk ◽  
Seyhmus Kaya

<b><i>Introduction:</i></b> “Human tail” is a congenital, benign anomaly in which a protrusion in the lumbosacrococcygeal caudal region is covered with skin. Arteriovenous hemangioma is a benign vascular lesion that may be congenital or acquired. We present a case in which a human tail was present with pathological findings of arteriovenous hemangioma. <b><i>Case Report:</i></b> A 6-month-old girl was born with a curved tail-shaped protrusion along her waistline. The distal portion was purple and had a solid consistency; the proximal portion was of normal skin color and had a soft consistency. No other abnormality was observed in the spinal area. Microscopic examination revealed congested, proliferated vascular structures in the fibrous stroma distally located under the multilayered squamous epithelium. In the proximal area, mature lipomatous tissue was observed. The lesion was diagnosed as arteriovenous hemangioma. <b><i>Conclusion:</i></b> Our patient presented with the classic “human tail” appearance at an early age and in the lumbosacral region. Because of the pathological findings, surgery for the congenital anomaly had to be performed with extra caution.


Author(s):  
Matthias Bechstein ◽  
Amarjargal Gansukh ◽  
Boldbat Regzengombo ◽  
Oyun Byambajav ◽  
Lukas Meyer ◽  
...  

Abstract Purpose Identification of country-specific demographic, medical, lifestyle, and geoenvironmental risk factors for cerebral aneurysm rupture in the developing Asian country of Mongolia. First-time estimation of the crude national incidence of aneurysmal subarachnoid hemorrhage (aSAH). Methods A retrospective analysis of all intracranial digital subtraction angiographies (DSA) acquired in Mongolia during the 2‑year period 2016–2017 (1714 examinations) was performed. During this period, DSA was used as primary diagnostic imaging modality for acute severe neurological symptoms in the sole hospital nationwide dedicated to neurological patients. The catchment area of the hospital included the whole country. Patients with incidental and ruptured aneurysms were reviewed with respect to their medical history and living conditions. The data was used to install a Mongolian aneurysm registry. Results The estimated annual crude incidence of cerebral aneurysm rupture was 6.71 for the country of Mongolia and 14.53 per 100,000 persons for the capital region of Ulaanbaatar. Risk factors common in developed countries also applied for the Mongolian population: A medical history of hypertension, smoking or the presence of multiple aneurysms led to a higher relative risk of rupture. In contrast, female gender was not associated with a higher risk in this national cohort. Males pursuing a traditional nomadic living may exhibit a specifically high risk of rupture. Conclusion Disease management of over 200 individuals/year with aSAH constitutes a socioeconomic burden in Mongolia. Efforts to raise awareness of the risk factors hypertension and smoking among the Mongolian population are desirable. Measures to improve the nationwide availability of modern neurovascular treatment options are currently under consideration.


BMJ Open ◽  
2021 ◽  
Vol 11 (11) ◽  
pp. e048647
Author(s):  
Fabian Proft ◽  
Murat Torgutalp ◽  
Burkhard Muche ◽  
Valeria Rios Rodriguez ◽  
Maryna Verba ◽  
...  

IntroductionPsoriatic arthritis (PsA) is an inflammatory disease characterised by synovitis, enthesitis, dactylitis and axial involvement. The prevalence of axial involvement ranges from 25% to 70% in this patient group. Treatment recommendations for axial PsA were mainly extrapolated from guidelines for axial spondyloarthritis, and the main treatment options are non-steroidal anti-inflammatory drugs and biological disease-modifying antirheumatic drugs (tumour necrosis factor, IL-17 and IL-23 inhibitors). Tofacitinib was approved for the treatment of PsA and its efficacy on axial inflammation has been demonstrated in a phase II study of ankylosing spondylitis (AS). This prospective study aims to evaluate the efficacy of tofacitinib in reducing inflammation in the sacroiliac joints (SIJs) and spine on MRI in patients with axial disease of their PsA presenting with active axial involvement compatible with axial PsA.Methods and analysesThis is a randomised, double-blind, placebo-controlled, multicentre clinical trial in patients with axial PsA who have evidence of axial involvement, active disease as defined by a Bath AS Disease Activity Index score of ≥4 and active inflammation on MRI of the SIJs and/or spine as assessed by and independent central reader. The study includes a 6-week screening period, a 24-week treatment period, which consist of a 12-week placebo-controlled double-blind treatment period followed by a 12-week active treatment period with tofacitinib for all participants, and a safety follow-up period of 4 weeks. At baseline, 80 subjects shall be randomised (1:1) to receive either tofacitinib or matching placebo for a 12-week double-blind treatment period. At week 12, an MRI of the whole spine and SIJs will be performed to evaluate the primary study endpoint.Ethics and disseminationThe study will be performed according to the ethical principles of the Declaration of Helsinki and the German drug law. The independent ethics committees of each centre approved the ethical, scientific and medical appropriateness of the study before it was conducted.Trial registration numberNCT04062695; ClinicalTrials.gov and EudraCT No: 2018-004254-22; European Union Clinical Trials Register.


2014 ◽  
Vol 41 (11) ◽  
pp. 2295-2300 ◽  
Author(s):  
Shawn Rose ◽  
Sergio Toloza ◽  
Wilson Bautista-Molano ◽  
Philip S. Helliwell

Dactylitis, a hallmark clinical feature of psoriatic arthritis (PsA) and other spondyloarthropathies, may also be a severity marker for PsA and psoriasis. Traditionally, clinicians have used nonsteroidal antiinflammatory drugs and local corticosteroid injections to treat dactylitis, although conventional disease-modifying antirheumatic drugs are also used. We performed a systematic literature review to determine the most efficacious current treatment options for dactylitis in PsA. Effect sizes were greatest for the biologic agents ustekinumab, certolizumab, and infliximab, suggesting that therapy with one of these agents should be initiated in patients with dactylitis. However, the limited data highlight the need for randomized, placebo-controlled trials, with dactylitis as a primary outcome, to determine a valid, reliable, and responsive clinical outcome measure for PsA patients with dactylitis.


2021 ◽  
pp. jrheum.201317
Author(s):  
Philip S. Helliwell ◽  
William Tillett ◽  
Robin Waxman ◽  
Laura C. Coates ◽  
Mel Brooke ◽  
...  

Objective Evaluation of a psoriatic arthritis (PsA), multidimensional, patient completed disease flare questionnaire (FLARE). Methods The FLARE questionnaire was administered to 139 patients in a prospective observational study. The ‘gold standard’ of flare was based on patient opinion. Test-retest was evaluated by intra-class correlation coefficient (ICC). Disease activity was measured by the PASDAS, GRACE, CPDAI and DAPSA. Results The most common symptoms of a PsA flare were musculoskeletal, followed by fatigue, frustration, loss of function and an increase in cutaneous symptoms. The test-retest ICC for the FLARE questionnaire was 0.87 (95% CI 0.72 – 0.94). The optimum cut-off to identify a flare of disease was 4/10 (sensitivity 0.82, specificity 0.76; area under curve 0.85). For those patients scoring 4 or above, the mean score for the composite measures was as follows (score for those not reporting a flare in brackets): PASDAS, 5.3 ± 1.3 (3.1 ± 1.6); GRACE, 4.5 ± 1.2 (2.2 ± 1.4); CPDAI, 8.9 ± 2.5 (4.7 ± 3.1); DAPSA, 38.2 ± 20.3 (16.8 ± 14.9). In a new flare the increase in composite measure score was calculated as follows; 1 for PASDAS and GRACE, 2 for CPDAI, 7 for DAPSA. Moderate agreement was found between the definition of flare using the cut-off of 4, indicated by subjects in a separate question. Conclusion A PsA flare displays escalation of symptoms and signs across multiple domains; the FLARE questionnaire has external validity both in terms of composite disease activity and overall patient opinion of the state of their condition.


2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 778-779
Author(s):  
J. S. Smolen ◽  
S. Siebert ◽  
T. Korotaeva ◽  
P. Bergmans ◽  
K. De Vlam ◽  
...  

Background:Among treatment options for PsA, IL-12/23 inhibition with UST was the first new biologic mode of action after TNFi. Few real-world data comparing UST with TNFi are available.Objectives:Comparison of UST and TNFi treatment effectiveness within the prospectively followed PsABio cohort at 12-month (mo) follow-up.Methods:The PsABio study (NCT02627768) evaluates effectiveness, tolerability and persistence of 1st, 2nd or 3rd-line UST or TNFi in PsA. Proportions of patients (pts) reaching MDA/very low disease activity (VLDA) and clinical Disease Activity index for PSoriatic Arthritis (cDAPSA) LDA/remission are described. Comparison across UST and TNFi cohorts was done on last observation carried forward up to 12 (±3) mo, with non-response imputation for pts who had stopped/switched initial treatment. Logistic regression analysis was used, including propensity score (PS) analysis to adjust for imbalanced prognostic baseline (BL) covariates: country, age, sex, BMI, smoking (yes/no), comorbidities (cardiovascular/metabolic syndrome), PsA type (axial, polyarticular, oligoarticular), psoriasis body surface area (BSA), disease duration, cDAPSA, 12-item PsA Impact of Disease (PsAID-12), dactylitis, enthesitis, Fibromyalgia Rapid Screening Tool (FiRST) score, line of biologic (b)DMARD, synthetic DMARD use, and steroid or NSAID use.Results:Of 929 eligible pts, 893 had evaluable data at BL and at follow-up; 438 (95.6%) were treated with UST and 455 (96.6%) with TNFi (including stoppers/switchers). UST and TNFi groups had BL differences in mean age (51.0 vs 48.5 years, respectively), concurrent comorbidities (68.7% vs 60.9%), time since diagnosis (7.5 vs 6.2 years), line of treatment (1st-line 45.0% vs 55.2%; 3rd-line 20.5% vs 12.1%), NSAID use (54.8% vs 68.8%), concomitant MTX use (29.9% vs 42.0%) and psoriasis skin involvement (BSA >10% in 26.6% vs 14.8%).In 714 pts with available data, mean (standard deviation) BL cDAPSA was 30.6 (20.2; n=358) for UST and 29.3 (18.6; n=356) for TNFi. Observed data showed differences in proportion of pts achieving MDA/VLDA and cDAPSA LDA/remission in favour of TNFi, but after PS adjustment for BL differences (such as line of therapy, skin psoriasis, concomitant conventional DMARD, etc.), odds ratios for reaching targets at 12 mo did not significantly differ between UST and TNFi groups (Fig. 1).Comparison of 6- and 12-mo unadjusted data showed sustained MDA/VLDA responses with both UST (21.8%) and TNFi (29.5%), with comparable proportions of additional pts achieving these targets between 6 and 12 mo (17.0% and 20.3%, respectively). Sustained efficacy became lower with successive lines of treatment (data not shown).Conclusion:Various factors, including patient characteristics such as comorbidities, influence the physician’s selection of treatment modality for patients needing a bDMARD. Our real-world results demonstrate differences in observed clinical effectiveness between UST and TNFi. However, after PS adjustment for a number of BL differences, clinical results at 12 mo were comparable between UST and TNFi groups. Data at 12 mo also show sustained response with both UST and TNFi treatment, as well as a similar rate of pts achieving targets after 6 to 12 mo of treatment.Acknowledgments:This study was funded by Janssen.Disclosure of Interests:Josef S. Smolen Grant/research support from: AbbVie, AstraZeneca, Celgene, Celltrion, Chugai, Eli Lilly, Gilead, ILTOO, Janssen, Novartis-Sandoz, Pfizer Inc, Samsung, Sanofi, Consultant of: AbbVie, AstraZeneca, Celgene, Celltrion, Chugai, Eli Lilly, Gilead, ILTOO, Janssen, Novartis-Sandoz, Pfizer Inc, Samsung, Sanofi, Stefan Siebert Grant/research support from: BMS, Boehringer Ingelheim, Celgene, GlaxoSmithKline, Janssen, Novartis, Pfizer, UCB, Consultant of: AbbVie, Boehringer Ingelheim, Janssen, Novartis, Pfizer, UCB, Speakers bureau: AbbVie, Celgene, Janssen, Novartis, Tatiana Korotaeva Grant/research support from: Pfizer, Consultant of: Abbvie, BIOCAD, Bristol-Myers Squibb, Celgene, Eli Lilly, Janssen, Merck Sharp & Dohme, Novartis, Novartis-Sandoz, Pfizer, UCB, Speakers bureau: Abbvie, BIOCAD, Bristol-Myers Squibb, Celgene, Eli Lilly, Janssen, Merck Sharp & Dohme, Novartis, Novartis-Sandoz, Pfizer, UCB, Paul Bergmans Shareholder of: Johnson & Johnson, Employee of: Janssen, Kurt de Vlam Consultant of: Celgene Corporation, Eli Lilly, Novartis, Pfizer, UCB – consultant, Speakers bureau: Celgene Corporation, Eli Lilly, Novartis, Pfizer, UCB – speakers bureau and honoraria, Elisa Gremese Consultant of: AbbVie, Bristol-Myers Squibb, Celgene, Eli Lilly, Janssen, Merck Sharp & Dohme, Novartis, Sanofi, UCB, Roche, Pfizer, Speakers bureau: AbbVie, Bristol-Myers Squibb, Celgene, Eli Lilly, Janssen, Merck Sharp & Dohme, Novartis, Sanofi, UCB, Roche, Pfizer, Beatriz Joven-Ibáñez Speakers bureau: Abbvie, Celgene, Janssen, Merck Sharp & Dohme, Novartis, Pfizer, Wim Noel Employee of: Janssen Pharmaceuticals NV, Michael T Nurmohamed Grant/research support from: Abbvie, Bristol-Myers Squibb, Celltrion, GlaxoSmithKline, Jansen, Eli Lilly, Menarini, Merck Sharp & Dohme, Mundipharma, Pfizer, Roche, Sanofi, USB, Consultant of: Abbvie, Bristol-Myers Squibb, Celltrion, GlaxoSmithKline, Jansen, Eli Lilly, Menarini, Merck Sharp & Dohme, Mundipharma, Pfizer, Roche, Sanofi, USB, Speakers bureau: Abbvie, Bristol-Myers Squibb, Celltrion, GlaxoSmithKline, Jansen, Eli Lilly, Menarini, Merck Sharp & Dohme, Mundipharma, Pfizer, Roche, Sanofi, USB, Petros Sfikakis Grant/research support from: Grant/research support from Abvie, Novartis, MSD, Actelion, Amgen, Pfizer, Janssen Pharmaceutical, UCB, Elke Theander Employee of: Janssen-Cilag Sweden AB, Laure Gossec Grant/research support from: Lilly, Mylan, Pfizer, Sandoz, Consultant of: AbbVie, Amgen, Biogen, Celgene, Janssen, Lilly, Novartis, Pfizer, Sandoz, Sanofi-Aventis, UCB


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