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    Aicardi-Goutières syndrome: unusual neuro-radiological manifestations.
    Metab Brain Dis 2017 Mar 23. Epub 2017 Mar 23.
    Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
    Aicardi-Goutières syndrome (AGS) is one of the expanding group of inherited congenital infection like syndromes. Here, we describe the detailed clinical and imaging findings of two sibs with AGS. Each shows scattered periventricular intracranial calcifications, severe global delay, seizures, microcephaly and spasticity. Read More

    [Cutaneous manifestations of sarcoidosis].
    Z Rheumatol 2017 Mar 17. Epub 2017 Mar 17.
    Abteilung für Dermatologie, Venerologie und Allergologie, Universitätsmedizin Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Deutschland.
    Skin manifestations of sarcoidosis occur in up to 30% of cases. This review summarizes and illustrates in detail the differences between specific and unspecific skin manifestations of sarcoidosis. Important differential diagnoses, such as tuberculosis, cutaneous lymphoma and syphilis have to be excluded. Read More

    High Altitude Dermatology.
    Indian J Dermatol 2017 Jan-Feb;62(1):59-65
    Department of Dermatology, Military Hospital, Ahmedabad, Gujarat, India.
    Approximately, 140 million people worldwide live permanently at high altitudes (HAs) and approximately another 40 million people travel to HA area (HAA) every year for reasons of occupation, sports or recreation. In India, whole of Ladakh region, part of Northwest Kashmir, Northern part of Sikkim and Tenga valley of Arunachal are considered inhabited areas of HAA. The low quantity of oxygen, high exposure of ultraviolet (UV) light, very low humidity, extreme subzero temperature in winter, high wind velocity, make this region difficult for lowlanders as well as for tourists. Read More

    Assessing the effectiveness of topical betamethasone to treat chronic chilblains: a randomised clinical trial in primary care.
    Br J Gen Pract 2017 Mar 13;67(656):e187-e193. Epub 2017 Feb 13.
    Department of Primary and Community Care, Gender and Women's Health; Radboud University Medical Centre, Nijmegen, the Netherlands.
    Background: GPs prescribe topical corticosteroids to patients with chronic chilblains despite poor evidence for their effectiveness. The authors of the current study therefore decided to assess the effectiveness of topical steroids in a primary care setting.

    Aim: To assess the effectiveness of topical application of betamethasone valerate 0. Read More

    Nifedipine vs Placebo for Treatment of Chronic Chilblains: A Randomized Controlled Trial.
    Ann Fam Med 2016 Sep;14(5):453-9
    Department of Primary and Community Care, Unit Gender and Women's Health, Radboud University Medical Center, Nijmegen, The Netherlands.
    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. Read More

    The importance of chilblains as a diagnostic clue for mild Aicardi-Goutières syndrome.
    Am J Med Genet A 2016 Dec 8;170(12):3308-3312. Epub 2016 Sep 8.
    Department of Dermatology, Oregon Health and Science University, Portland, Oregon.
    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. Read More

    Phenotypic familial aggregation in chronic chilblains.
    Fam Pract 2016 Oct 6;33(5):461-5. Epub 2016 Jul 6.
    Department of Primary and Community Care, Unit Sex and Women's Health, Radboud University Medical Center, Internal Post Code 118, PO Box 9101, 6500 HB Nijmegen, The Netherlands.
    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. Read More

    Type I interferonopathies in pediatric rheumatology.
    Pediatr Rheumatol Online J 2016 Jun 4;14(1):35. Epub 2016 Jun 4.
    U.O. Pediatria 2, Istituto Giannina Gaslini, Genoa, Italy.
    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. Read More

    Sarcoidosis patient with lupus pernio and infliximab-induced myositis: Response to Acthar gel.
    Respir Med Case Rep 2016 19;17:5-7. Epub 2015 Nov 19.
    Department of Internal Medicine, University of Cincinnati Medical Center, 1001 Holmes, Eden Ave, Cincinnati, OH, 45267, USA.
    Infliximab is an effective treatment for sarcoidosis patients with persistent disease despite glucocorticoids and immunosuppressive therapy. Patients receiving infliximab can experience side effects, inducing an autoimmune reaction. Treatment is unclear for sarcoidosis patients who develop autoimmune reactions to infliximab. Read More

    Clinical and radiological features of extra-pulmonary sarcoidosis: a pictorial essay.
    Insights Imaging 2016 Aug 25;7(4):571-87. Epub 2016 May 25.
    Regional Centre for Interstitial and Rare Lung Diseases, Department of Clinical and Molecular Biomedicine, University Hospital Policlinico-Vittorio Emanuele, Via Santa Sofia 78, 95123, Catania, Italy.
    Unlabelled: The aim of this manuscript is to describe radiological findings of extra-pulmonary sarcoidosis. Sarcoidosis is an immune-mediated systemic disease of unknown origin, characterized by non-caseating epitheliod granulomas. Ninety percent of patients show granulomas located in the lungs or in the related lymph nodes. Read More

    Chilblain-like leukaemia cutis.
    BMJ Case Rep 2016 Apr 19;2016:10.1136/bcr-2016-214838. Epub 2016 Apr 19.
    Pathology and Laboratory Medicine, University of Kansas School of Medicine, Kansas City, Kansas, USA.
    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. Read More

    [Lumbar sympathectomy literature review over the past 15 years].
    Rozhl Chir 2016 Mar;95(3):101-6
    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. Read More

    Sarcoidosis: An unusual presentation.
    Reumatol Clin 2016 Apr 8. Epub 2016 Apr 8.
    Rheumatology Department, Centro Hospitalar de São João, Porto, Portugal.
    A 35-year-old man presented with a 3-year history of arthralgia and purple coloration of the skin of his fingers and feet. Hand and foot radiography showed cystic bone lesions on phalanges suggestive of sarcoidosis. Lab tests revealed increased liver enzymes. Read More

    Seasonal variations in dermatologic and dermatopathologic diagnoses: a retrospective 15-year analysis of dermatopathologic data.
    Int J Dermatol 2016 Oct 7;55(10):1115-8. Epub 2016 Apr 7.
    Temple University School of Medicine, Philadelphia, PA, USA.
    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.

    Methods: Data were derived from a 15-year retrospective review of electronic records from a large dermatopathology laboratory located in the mid-Atlantic region of the USA. Read More

    Treatment of primary perniosis with oral pentoxifylline (a double-blind placebo-controlled randomized therapeutic trial).
    Dermatol Ther 2016 Jul 15;29(4):263-8. Epub 2016 Mar 15.
    Department of Dermatology, Ibn Sina University of Medical and Pharmaceutical Sciences, Baghdad, Iraq.
    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. Read More

    Paroxysmal finger haematoma--a benign acrosyndrome occurring in middle-aged women.
    Vasa 2016 Jan;45(1):57-62
    1 Department of Vascular Medicine, Grenoble University Hospital, France.
    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. Read More

    Cold-Associated Perniosis of the Thighs ("Equestrian-Type" Chilblain): A Reappraisal Based on a Clinicopathologic and Immunohistochemical Study of 6 Cases.
    Am J Dermatopathol 2016 Oct;38(10):726-31
    *Research Unit Dermatopathology, Department of Dermatology, Medical University of Graz, Graz, Austria; and †Anatomic Pathology Unit, Gaetano Rummo Hospital, Benevento, Italy.
    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. Read More

    Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report.
    Am J Med Genet A 2016 May 1;170A(5):1317-24. Epub 2016 Feb 1.
    Department of Genetics, Rouen University Hospital, Rouen, France.
    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. Read More

    [Cutaneous manifestations of sarcoidosis].
    Ann Dermatol Venereol 2016 Jan 19;143(1):39-50. Epub 2016 Jan 19.
    Service de dermatologie, Hôpitaux universitaires Paris-Nord Val-de-Seine, Hôpital Bichat-Claude-Bernard, Université Paris-Diderot, 46, rue Henri-Huchard, 75018 Paris, France.
    Sarcoidosis is a systemic granulomatous disorder of unknown aetiology. Its dermatological manifestations are extremely polymorphous. They are normally classed as either specific lesions, comprising granulomas, which are generally chronic, or non-specific lesions, principally acute erythema nodosum. Read More

    Pulmonary and extra-pulmonary manifestations of sarcoidosis.
    Niger Med J 2015 Jul-Aug;56(4):258-62
    Chronic Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran.
    Background: Sarcoidosis is a systemic multi-organ granulomatous disease of unknown etiology that is characterized by the presence of granuloma in various organs. The clinical features of sarcoidosis are heterogeneous but pulmonary involvement is cardinal manifestations. The aim of this study was to determine radiologic, clinical and laboratory findings of patients with sarcoidosis. Read More

    Single-Port Microthoracoscopic Sympathicotomy for the Treatment of Primary Palmar Hyperhidrosis: an Analysis of 56 Consecutive Cases.
    Indian J Surg 2015 Aug 3;77(4):270-5. Epub 2015 Jun 3.
    Department of Cardiothoracic Surgery, Clinical College, Yangzhou University, 11 Huaihai Road, Yangzhou, 225001 Jiangsu Province People's Republic of China.
    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. Read More

    Musculoskeletal manifestations of Fabry disease: A retrospective study.
    Joint Bone Spine 2016 Jul 14;83(4):421-6. Epub 2015 Dec 14.
    Service de Rhumatologie, Médecine Interne, Site Diaconesses Croix St.-Simon, 125, rue d'Avron, 75020 Paris, France; Centre de Référence Maladies Lysosomales, Site Diaconesses Croix St.-Simon, 125, rue d'Avron, 75020 Paris, France.
    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. Read More

    Equestrian perniosis: A case report and review of the literature.
    Dermatol Online J 2015 Oct 16;21(10). Epub 2015 Oct 16.
    Michigan State University.
    Equestrian perniosis is a rare form of perniosis that is predominantly seen in young female equestrians who ride in cold temperatures. Tight fitting clothing, age under 35 years, and smoking can contribute to the disease manifestation. The diagnosis can be determined from a thorough history and physical examination. Read More

    Cutaneous Sarcoidosis.
    Clin Chest Med 2015 Dec 26;36(4):685-702. Epub 2015 Sep 26.
    Department of Dermatology, University of Pennsylvania, 3400 Spruce Street, Philadelphia, PA 19104, USA. Electronic address:
    The skin is the second most common organ affected in sarcoidosis, which can affect patients of all ages and races, with African American women having the highest rates of sarcoidosis in the United States. The cutaneous manifestations are protean and can reflect involvement of sarcoidal granulomas within the lesion or represent reactive non-specific inflammation, as seen with erythema nodosum. Systemic work-up is necessary in any patient with cutaneous involvement of sarcoidal granulomas, and treatment depends on other organ involvement and severity of clinical disease. Read More

    Prognostic value of skin lesions in sarcoidosis: clinical and histopathological clues.
    Eur J Dermatol 2015 Nov-Dec;25(6):556-62
    Department of Dermatology, Hospital Universitari Vall d'Hebron, Barcelona, Spain, Department of Dermatology/Medicine, Universitat Autònoma de Barcelona, Spain Direction: Passeig de la Vall d'Hebron, 119-129, 08035 Barcelona, Spain.
    Background: Although tremendous advances have been made, a significant gap exists between the vast knowledge accumulated concerning sarcoidosis in recent years and our understanding of this disease.

    Objective: Describe the main clinical and histopathological findings associated with cutaneous sarcoidosis and to investigate the relationship of these skin lesions with systemic involvement.

    Methods: A retrospective review of 41 patients who were diagnosed with cutaneous sarcoidosis was done. Read More

    Sarcoidosis: a rheumatologist's perspective.
    Ther Adv Musculoskelet Dis 2015 Oct;7(5):196-205
    Associate Professor, Department of Rheumatology, Sifa University Faculty of Medicine, 35100-Bornova, Izmir, Turkey.
    Sarcoidosis is a systemic disorder of unknown etiology, which may involve various tissues and organs and is characterized by a noncaseating granuloma reaction. While pathogenesis is not yet clear, cellular immune system activation and nonspecific inflammatory response occur secondarily to several genetic and environmental factors. T helper 1-cells and macrophage-derived pro-inflammatory cytokines stimulate the inflammatory cascade and formation of granuloma occurs as a result of tissue permeability, cell influx, and local cell proliferation. Read More

    [Type I interferonopathies].
    Ann Dermatol Venereol 2015 Nov 9;142(11):653-63. Epub 2015 Sep 9.
    Département de dermatologie, hôpital Saint-Eloi, CHRU de Montpellier, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 5, France; Université Montpellier 1, 163, rue Auguste-Broussonnet, 34090 Montpellier, France; Inserm U1058, UFR de pharmacie, 15, avenue Charles-Flahaut, 34093 Montpellier cedex 5, France. Electronic address:
    Type I interferonopathies are a group of Mendelian disorders characterized by a common physiopathology: the up-regulation of type I interferons. To date, interferonopathies include Aicardi-Goutières syndrome, familial chilblain lupus, spondyenchondromatosis, PRoteasome-associated auto-inflammatory syndrome (PRAAS) and Singleton-Merten syndrome. These diseases present phenotypic overlap including cutaneous features like chilblain lupus, that can be inaugural or present within the first months of life. Read More

    Juvenile Spring Eruption: A Variant of Perniosis?
    Am J Dermatopathol 2015 Sep;37(9):721-3
    *Department of Medicine, Division of Dermatology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY; †Department of Medicine, Division of Dermatology, Washington University School of Medicine, St. Louis, MO; ‡Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO; §Advanced Dermatology of Westchester, PLLC, Tarrytown, NY; ¶Dermpath Diagnostics, Port Chester, NY; and ‖Department of Pathology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY.
    Juvenile spring eruption (JSE) is a unique condition that typically affects the helices of the ears of boys and young men. The classical clinical picture of JSE includes the abrupt onset of lesions after spending time outdoors in the early spring. Because of the papulovesicular nature of the rash and the history of sun exposure, JSE is considered a variant of polymorphous light eruption. Read More

    Pattern of chilblains in a high altitude region of Ladakh, India.
    Med J Armed Forces India 2015 Jul 10;71(3):265-9. Epub 2013 May 10.
    Commandant, MH Nasirabad, India.
    Background: Extreme sub-zero temperature in winters (15 °C to -25 °C), high velocity winds and wind-chill factor pose risk to those who resides at the high altitude environment to develop cold related injuries like chilblains and frostbite. The aim of this study was to study the patterns of chilblains in high altitude region like Ladakh.

    Methods: The study was conducted at Dermatology outpatient department of Military Hospital, Leh from 1 Sep 2009 to 31 May 2010. Read More

    Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes.
    Br J Dermatol 2015 Dec 29;173(6):1505-13. Epub 2015 Oct 29.
    Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, U.K.
    Cutaneous lesions described as chilblain lupus occur in the context of familial chilblain lupus or Aicardi-Goutières syndrome. To date, seven genes related to Aicardi-Goutières syndrome have been described. The most recently described encodes the cytosolic double-stranded RNA receptor IFIH1 (also known as MDA5), a key component of the antiviral type I interferon-mediated innate immune response. Read More

    Vasospasm Is a Consistent Finding in Pernio (Chilblains) and a Possible Clue to Pathogenesis.
    Dermatology 2015 12;231(3):274-9. Epub 2015 Aug 12.
    Department of Dermatology, Mayo Clinic, Rochester, Minn., USA.
    Background/aims: Pernio (chilblains) is an inflammatory condition classically characterized by localized erythema and swelling of acral sites upon exposure to cool and damp conditions. We sought to determine whether cold-induced vasospasm has a role in the development of pernio.

    Methods: We retrospectively reviewed 5 patients with pernio who were seen at our institution between January 1, 2000 and December 31, 2011, and had undergone a noninvasive arterial vascular study of the upper extremities that corresponded to a site of clinical involvement of pernio and who had also undergone vasospastic testing and ice water immersion as part of the noninvasive arterial vascular study protocol. Read More

    [Diagnosis of vascular acrosyndromes].
    Ann Dermatol Venereol 2015 Aug-Sep;142(8-9):513-8. Epub 2015 Jul 11.
    Service de dermatologie, UF de dermatologie vasculaire, hôpital Tenon, 4, rue de la Chine, 75970 Paris cedex 20, France. Electronic address:
    Vascular acrosyndromes are associated with vasomotor disorders. They may be paroxysmal, like Raynaud's phenomenon, whitening of the fingers on exposure to cold, or erythromelalgia, a painful form of erythema induced by exposure to heat. Others are permanent or semi-permanent, such as acrocyanosis, chilblains, spontaneous haematoma of the fingers, acrocholose and digital ischaemia or necrosis. Read More

    Dermatol Clin 2015 Jul;33(3):389-416
    The Ronald O. Perelman Department of Dermatology, New York University School of Medicine, New York, NY 10016, USA.
    Sarcoidosis is a disease characterized by noncaseating granulomatous infiltration of 1 or more organs. In North America, after the lungs and thoracic lymph nodes, the skin is the next most commonly involved organ. Data from multiple studies indicate a coaction between genetic and environmental factors in immunologically susceptible hosts. Read More

    Exonuclease TREX1 degrades double-stranded DNA to prevent spontaneous lupus-like inflammatory disease.
    Proc Natl Acad Sci U S A 2015 Apr 6;112(16):5117-22. Epub 2015 Apr 6.
    Department of Biochemistry, Center for Structural Biology, Wake Forest School of Medicine, Winston-Salem, NC 27157
    The TREX1 gene encodes a potent DNA exonuclease, and mutations in TREX1 cause a spectrum of lupus-like autoimmune diseases. Most lupus patients develop autoantibodies to double-stranded DNA (dsDNA), but the source of DNA antigen is unknown. The TREX1 D18N mutation causes a monogenic, cutaneous form of lupus called familial chilblain lupus, and the TREX1 D18N enzyme exhibits dysfunctional dsDNA-degrading activity, providing a link between dsDNA degradation and nucleic acid-mediated autoimmune disease. Read More

    Human disease phenotypes associated with mutations in TREX1.
    J Clin Immunol 2015 Apr 4;35(3):235-43. Epub 2015 Mar 4.
    Manchester Centre for Genomic Medicine, Institute of Human Development Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.
    Considering that it is a single exon gene encoding a 314 amino acid protein, the genotype-phenotype landscape of TREX1 is remarkably complex. Here we briefly describe the human diseases so-far associated with mutations in TREX1, which include Aicardi-Goutières syndrome, familial chilblain lupus, systemic lupus erythematosus and retinal vasculopathy with cerebral leukodystrophy. Read More

    A case of good syndrome presumed secondary to metastatic pancreatic thymoma in a patient presenting with a myasthenic crisis postthymectomy.
    J Clin Neuromuscul Dis 2015 Mar;16(3):159-63
    *Division of Neurology, The University of British Columbia, Vancouver, British Columbia, Canada; and †Department of Pathology and Laboratory Medicine, The University of British Columbia, Vancouver, British Columbia, Canada.
    Introduction: Myasthenia gravis (MG) is an autoimmune disorder characterized by autoantibodies against the postsynaptic nicotinic acetylcholine receptors, muscle-specific tyrosine kinase, low-density lipoprotein receptor-related protein 4, and agrin. The incidence of thymoma in MG is reported as ∼10%-15%. The incidence of extrathoracic metastatic thymoma is exceedingly rare and may present years after resection. Read More

    Idiopathic perniosis of the buttocks and thighs - clinical report.
    Dermatol Online J 2015 Jan 15;21(1). Epub 2015 Jan 15.
    Dermatovenereology Service, Hospital Garcia de Orta, Almada, Portugal.
    Perniosis manifests as inflammatory cutaneous lesions mostly located on acral skin in association with cold and damp conditions. Perniosis of the thighs is quite uncommon and has been associated in the literature with horse riding (equestrian perniosis) or with other recreational activities with long time exposure to cold and humidity. We report a rare case of perniosis of the buttocks and thighs in a 34-year-old healthy woman without a previous history of horse riding or other high-risk activities. Read More

    Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
    Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.
    INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.
    Aicardi-Goutières syndrome is an inflammatory disease occurring due to mutations in any of TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on 374 patients from 299 families with mutations in these seven genes. Most patients conformed to one of two fairly stereotyped clinical profiles; either exhibiting an in utero disease-onset (74 patients; 22. Read More

    Features of sarcoidosis associated with chronic disease.
    Sarcoidosis Vasc Diffuse Lung Dis 2015 Jan 5;31(4):275-81. Epub 2015 Jan 5.
    University of Cincinnati.
    Background: The clinical outcome of sarcoidosis is variable. Several features have been proposed as predictive of chronic sarcoidosis.

    Objectives: To examine the predictive role of clinical features on the clinical outcome score (COS) of sarcoidosis patients five years after initial diagnosis. Read More

    Proteasome-associated autoinflammatory syndromes: advances in pathogeneses, clinical presentations, diagnosis, and management.
    Int J Dermatol 2015 Feb 18;54(2):121-9. Epub 2014 Dec 18.
    College of Medicine, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
    The disease spectrum currently known as the proteasome-associated autoinflammatory syndromes (PRAAS) was first described in 1939 in patients who presented with recurrent fevers beginning in infancy or early childhood, which were accompanied by nodular erythema, a pernio-like rash, and joint contractures. Since then, several syndromes, such as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome, Nakajo-Nishimura syndrome (NNS), joint contractures, muscle atrophy, microcytic anemia and panniculitis-induced lipodystrophy (JMP) syndrome, and Japanese autoinflammatory syndrome with lipodystrophy (JASL), have been used to categorize patients with diseases within the same spectrum. Recently, independent studies have identified mutations in the human proteasome subunit β type 8 (PSMB8) gene, which result in a sustained inflammatory response in all syndromes. Read More

    Familial chilblain lupus due to a novel mutation in the exonuclease III domain of 3' repair exonuclease 1 (TREX1).
    JAMA Dermatol 2015 Apr;151(4):426-31
    Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
    Importance: Familial chilblain lupus is a rare, autosomal dominant form of lupus erythematosus characterized by cold-induced inflammatory lesions at acral locations presenting in early childhood. Familial chilblain lupus is usually caused by a mutation in TREX1 (3' repair exonuclease 1).

    Observations: We report on a family with dominant chilblain lupus segregating a novel TREX1 mutation (c. Read More

    Ethnomedicinal plants used to treat skin diseases by Tharu community of district Udham Singh Nagar, Uttarakhand, India.
    J Ethnopharmacol 2014 Dec 14;158 Pt A:140-206. Epub 2014 Oct 14.
    Department of Botany, HNB Garhwal University, Srinagar Garhwal 246174, Uttarakhand, India.
    Ethnopharmacological Relevance: Tharu community is the largest primitive indigenous community of the Uttarakhand, India. In this article we have scientifically enumerated medicinal plants and herbal preparations used by the Tharu community to treat various skin diseases, and discussed dermatological properties of these plants in the light of previous ethnomedicinal, microbiological, pharmacological, toxicological, phytochemical and clinical studies.

    Materials And Methods: Ethnomedicinal survey was conducted in different villages of Tharu community located in district Udham Singh Nagar, Uttarakhand, India. Read More

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