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Ibo H Souwer, Jacobus H J Bor, Paul Smits, Antoine L M Lagro-Janssen
PURPOSE: Nifedipine is commonly prescribed for the treatment of chilblains (pernio, perniosis) on the basis of observational studies and a single small, older clinical trial. We aimed to confirm the proposed superiority of oral nifedipine 60 mg per day over placebo for treatment of chronic chilblains in primary care. METHODS: We performed a randomized, placebo-controlled, double-blind, crossover trial, closely following the design of the older trial. A total of 32 patients with chronic chilblains were randomly assigned to nifedipine (30 mg controlled release twice a day) or placebo...
September 2016: Annals of Family Medicine
Kevin Yarbrough, Calida Danko, Alfons Krol, Jonathan Zonana, Sabra Leitenberger
Aicardi-Goutières syndrome (AGS) is classically characterized by early-onset encephalopathy. However, in some cases, the presenting symptom of concern may actually be cutaneous rather than neurological, leading to the misdiagnosis of the condition. We report the case of three teenage siblings who presented with a lifetime history of chilblain lesions, only one of whom had notable neurologic deficits. Additional findings included acrocyanosis, Raynaud's phenomenon, low-pitch hoarse voice, headache, and arthritis...
September 8, 2016: American Journal of Medical Genetics. Part A
Nadja König, Christoph Fiehn, Christine Wolf, Max Schuster, Emanuel Cura Costa, Victoria Tüngler, Hugo Ariel Alvarez, Osvaldo Chara, Kerstin Engel, Raphaela Goldbach-Mansky, Claudia Günther, Min Ae Lee-Kirsch
OBJECTIVES: Familial chilblain lupus is a monogenic form of cutaneous lupus erythematosus caused by loss-of-function mutations in the nucleases TREX1 or SAMHD1. In a family without TREX1 or SAMHD1 mutation, we sought to determine the causative gene and the underlying disease pathology. METHODS: Exome sequencing was used for disease gene identification. Structural analysis was performed by homology modelling and docking simulations. Type I interferon (IFN) activation was assessed in cells transfected with STING cDNA using an IFN-β reporter and Western blotting...
August 26, 2016: Annals of the Rheumatic Diseases
A K Jindal
The Indian Armed Forces Medical Services has been engaged in providing medical to the soldiers serving on Siachen Glacier for the last 25 years. This paper attempts to highlight the medical problems faced by troops on the world's highest battlefield as perceived by a medical officer located on the forward most medical echelon on Siachen Glacier. The medical problems on the glacier include high altitude pulmonary oedema, acute mountain sickness, frost bite chilblains, hypothermia, snow blindness, injury non enemy action due to avalanches, crevasses and fires, carbon monoxide poisoning and problems in disposal of nightsoil...
April 2009: Medical Journal, Armed Forces India
Ibo H Souwer, Deborah Smaal, Jacobus H J Bor, Nine Knoers, Antoine L M Lagro-Janssen
BACKGROUND: Our clinical observations and two earlier studies indicate familial clustering to be involved in chronic chilblains. Demonstrating phenotypic familial aggregation is a next step to investigate the origin of familial clustering. OBJECTIVE: This study was initiated to assess evidence for phenotypic familial aggregation in chronic chilblains. METHODS: Using a case-control family design in a primary care setting, we computed the familial relative risk of at least one episode of chronic chilblains during life with 95% confidence intervals (CIs)...
October 2016: Family Practice
Stefano Volpi, Paolo Picco, Roberta Caorsi, Fabio Candotti, Marco Gattorno
Defective regulation of type I interferon response is associated with severe inflammatory phenotypes and autoimmunity. Type I interferonopathies are a clinically heterogenic group of Mendelian diseases with a constitutive activation of this pathway that might present as atypical, severe, early onset rheumatic diseases. Skin vasculopathy with chilblains and livedo reticularis, interstitial lung disease, and panniculitis are common. Recent studies have implicated abnormal responses to nucleic acid stimuli or defective regulation of downstream effector molecules in disease pathogenesis...
2016: Pediatric Rheumatology Online Journal
A M Saracino, C H Orteu
Fumaric acid esters (FAE) have proven efficacy in the treatment of psoriasis and have been in use for decades. More recently, as their mechanism of action and abundant immunomodulatory effects become clearer, potential benefits in other inflammatory skin conditions are becoming increasingly recognized. The use of FAE as combination systemic therapy has not been well studied, and data on safety and efficacy in this scenario is lacking. Three patients with severe, extensive and recalcitrant cutaneous manifestations of systemic lupus erythematosus; one case of disseminated discoid lesions and two with severe chilblain lesions, were treated with Fumaderm(®) (containing the FAE dimethylfumarate and monoethylhydrogen fumarate salts), after failing to respond to a multitude of other mono and combination therapies...
April 23, 2016: British Journal of Dermatology
Chi Tran, Gary McEwen, Garth Robert Fraga
Chilblain, also known as pernio, is an abnormal inflammatory response to cold, moist environmental conditions. Persistent or atypical lesions should prompt investigation to exclude underlying systemic illness. We describe a case of acute myeloid leukaemia that presented with chilblain-like leukaemia cutis.
2016: BMJ Case Reports
M Pekař, M Mazur, A Pekařová, J Kozák, A Foltys
INTRODUCTION: Lumbar sympathectomy (LS) irreversibly damages a part of the sympathetic trunk and adjacent ganglia between L1 and L5, typically between L2 and L4. The first LS was performed in 1923. Initially, it used to be performed very often; however, with the progress of vascular and endovascular surgery its importance gradually continues to decline. The aim of the paper is to present literature review focusing on LS over the past 15 years. METHOD: Literature review of 113 academic articles found in academic journal databases...
March 2016: Rozhledy V Chirurgii: Měsíčník Československé Chirurgické Společnosti
Jeff D Harvell, Daniel J Selig
BACKGROUND: Certain dermatologic conditions are known to show seasonal variations in frequency, the reasons for which are unclear but in some cases may be attributable to changes in ambient weather conditions. OBJECTIVES: The current study was conducted to determine whether seasonal trends might exist for dermatologic conditions including erythema multiforme, guttate psoriasis, erythema dyschromicum perstans (ashy dermatosis), pityriasis lichenoides, and pityriasis rosea...
October 2016: International Journal of Dermatology
Joseph S Baker, Sarnarendra Miranpuri
Perniosis, or chilblain, is an uncommon condition of the acral skin. Presented herein is a case report of a 65-year-old otherwise healthy construction worker with perniosis. He had a 3-year history of lesions on the fingers and toes brought on by cold, damp weather. On initial presentation, a biopsy sample was taken of a hallux lesion, and the patient was given a trial course of nifedipine therapy. Follow-up at 3 weeks showed complete relief of symptoms with nifedipine use, and the biopsy results confirmed the diagnosis...
March 2016: Journal of the American Podiatric Medical Association
Nameer K Al-Sudany
Primary perniosis is an annoying cold-induced dermatosis. Many therapeutic agents have been tried with either unsatisfactory or controversial results. The aim of this study was to assess the efficacy of oral pentoxyfylline in the treatment of primary perniosis. A double-blind placebo-controlled randomized therapeutic study conducted in dermatology department of Al-Yarmouk Teaching Hospital, Baghdad, Iraq during four winter seasons between 2010 and 2014. The patients were randomly allocated into two equal groups: group A patients were given oral pentoxyfylline 400 mg thrice daily whereas patients in group B were given an identical placebo tablet thrice daily for 3 weeks...
July 2016: Dermatologic Therapy
Patrick H Carpentier, Hildegard R Maricq, Christine Biro, Myriam Jiguet, Christophe Seinturier
BACKGROUND: Paroxysmal finger haematoma (PFH) is an under-recognised vascular acrosyndrome with no epidemiological description to date. The aim of this work was to evaluate the prevalence, risk factors and clinical correlates of PFH in a population-based sample of subjects and to describe their semiological characteristics. PATIENTS AND METHODS: This cross-sectional study of random samples of the general population in three geographic areas of France involved 802 subjects, 548 women and 254 men, aged 18 to 84 years...
January 2016: VASA. Zeitschrift Für Gefässkrankheiten
Joerg Wenzel, Nadine van Holt, Judith Maier, Maria Vonnahme, Thomas Bieber, Dominik Wolf
No abstract text is available yet for this article.
June 2016: Journal of Investigative Dermatology
Guolong Zhang, Minhua Shao, Zhixiu Li, Yong Gu, Xufeng Du, Xiuli Wang, Ming Li
BACKGROUND: Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant cutaneous disorder caused by the mutations of adenosine deaminase acting on RNA1 (ADAR1) gene. We present a clinical and genetic study of seven unrelated families and two sporadic cases with DSH for mutations in the full coding sequence of ADAR1 gene. METHODS: ADAR1 gene was sequenced in seven unrelated families and two sporadic cases with DSH and 120 controls. Functional significance of the observed ADAR1 mutations was analyzed using PolyPhen 2, SIFT and DDIG-in...
2016: BMC Medical Genetics
Gerardo Ferrara, Lorenzo Cerroni
Cold-associated perniosis of the thighs ("equestrian cold panniculitis") is an unusual and still enigmatic entity. The authors retrieved 6 cases for a re-evaluation of their clinicopathologic features and for an immunohistochemical assessment with antibodies anti-CD3, anti-CD20, and anti-CD123. All patients were women, aged 17-45 years. One of them had elevated antinuclear antibody titers. Available anamnestic data confirmed the triggering role of prolonged/intermittent exposure to cold (not necessarily for equestrian activities)...
October 2016: American Journal of Dermatopathology
Florent Marguet, Annie Laquerrière, Alice Goldenberg, Anne-Marie Guerrot, Olivier Quenez, Philippe Flahaut, Catherine Vanhulle, Clémentine Dumant-Forest, Françoise Charbonnier, Myriam Vezain, Soumeya Bekri, Isabelle Tournier, Thierry Frébourg, Gaël Nicolas
We describe the case of a young patient with calcifying encephalopathy, born to asymptomatic parents. An extensive hypothesis-driven etiological assessment was performed and failed to detect the precise etiology during many years. We therefore decided to perform whole exome sequencing of the child-unaffected parents trio. A de novo pathogenic variant in the IFIH1 gene which has recently been shown to cause autosomal dominant forms of Aicardi-Goutières syndrome was identified. This child presented with a severe form with neonatal thrombocytopenia and hepatomegaly, the latter having been detected during late gestation...
May 2016: American Journal of Medical Genetics. Part A
F Rutsch
No abstract text is available yet for this article.
December 2015: British Journal of Dermatology
Hongcan Shi, Yusheng Shu, Weiping Shi, Shichun Lu, Chao Sun
The objective of this study is to investigate the feasibility and safety of single-port microthoracoscopic thoracic sympathicotomy for the treatment of palmar hyperhidrosis. Between January 2008 and March 2013, 56 patients (36 male, 20 female; mean age 25.6 years, age range 16-39 years) underwent single-port microthoracoscopic thoracic sympathicotomy for palmar hyperhidrosis. Nineteen patients (33.9 %) had moderate palmar hyperhidrosis that could thoroughly wet a handkerchief, and 37 (66.1 %) had severe palmar hyperhidrosis with sweat dripping from the palm...
August 2015: Indian Journal of Surgery
Olivier Lidove, Valérie Zeller, Valérie Chicheportiche, Vanina Meyssonnier, Thomas Sené, Sophie Godot, Jean-Marc Ziza
OBJECTIVES: Fabry disease is a rare X-linked metabolic disorder characterized by a deficiency in the enzyme alpha-galactosidase A. Both males and females can be affected. The main presenting symptom is pain in the extremities, whereas at a more advanced stage, the manifestations include hypertrophic cardiomyopathy, cardiac dysrhythmia, proteinuria, chronic kidney dysfunction, stroke, and hearing loss. When not diagnosed and treated, Fabry disease causes early death. No studies specifically designed to describe the musculoskeletal manifestations of Fabry disease are available...
July 2016: Joint, Bone, Spine: Revue du Rhumatisme
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