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    1 OF 11

    Impending gangrene of fingers by constriction bands of mother's hair mistaken as pernio by parents: A case series of 10 infants.
    J Clin Orthop Trauma 2017 Oct-Dec;8(4):344-347. Epub 2017 Jun 3.
    Registrar Orthopaedics, SKIMS, Medical College, Bemina, Srinagar, India.
    Background: Long harsh winter in Kashmir Valley increase the incidence of pernio in children so much that common people consider every hand swelling as pernio.

    Methods: 10 Infants over two years were brought to our hospital as cases of pernio involving fingers.

    Results: All the infants came out to be cases of impending gangrene due to mother's hair as constriction bands around fingers. Read More

    Lupoid cutaneous Leishmaniasis: A Report of Three Cases from Nonendemic Area.
    Indian J Dermatol 2017 Sep-Oct;62(5):548
    Department of Dermatology, Venereology and Leprology, R.N.T. Medical College, Udaipur, Rajasthan, India.
    The typical clinical presentations of cutaneous leishmaniasis are nodules, ulcer, nodulo-ulcerative lesions and crusted plaques. Besides classical clinical picture, several unusual and atypical clinical presentations of the disease have also been reported. Herein, we report three cases of lupoid cutaneous leishmaniasis to highlight the extended clinical spectrum of CL. Read More

    A homozygote TREX1 mutation in two siblings with different phenotypes: Chilblains and cerebral vasculitis.
    Eur J Med Genet 2017 Sep 13. Epub 2017 Sep 13.
    Department of Pediatric Rheumatology, Cukurova University Faculty of Medicine, Adana, Turkey. Electronic address:
    Three prime repair exonuclease 1 degrades single and double stranded DNA with 3'-5' nuclease activity and its mutations are related to type 1 IFN mediated autoinflammation due to accumulated intracellular nucleic acids. To date, several cases of systemic lupus erythematosus, Aicardi-Goutieres syndrome, familial chilblain lupus, retinal vasculopathy-cerebral leukodystrophy have been reported with TREX1 mutations. Chilblain lupus is a skin disease characterized by blue-reddish coloring, swelling or ulcers on acral regions of body such as fingertips, heels, nose and auricles. Read More

    Non-Atherosclerotic Vascular Disease in Women.
    Curr Treat Options Cardiovasc Med 2017 Sep 14;19(10):78. Epub 2017 Sep 14.
    Cardiovascular Division, Vanderbilt University Medical Center, 1215 21st Avenue South MCE South Tower, Nashville, TN, 37232, USA.
    Opinion Statement: Takayasu arteritis, fibromuscular dysplasia (FMD), spontaneous arterial dissection, Raynaud's phenomenon, and chilblains are vascular conditions that are associated with an increased predisposition in women and are often underdiagnosed. Takayasu arteritis has an incidence rate of 2.6 cases per million individuals per year in the USA and predominantly affects women of childbearing age. Read More

    I Can Not Wear My Sunglasses: An Unusual Sarcoidosis Presentation.
    Korean J Fam Med 2017 Jul 20;38(4):226-228. Epub 2017 Jul 20.
    Department of Internal Medicine Unit, University Hospital Salamanca, Salamanca, Spain.
    A 39-year-old Caucasian man was referred to University Hospital Salamanca from a primary care unit due to the presence of an erythematous violaceous nodule at the superior portion of his nose. Physical examination indicated that the firm, fixed erythematous violaceous nodule measured approximately 2 cm in diameter and was located inferior to a scar on the nasal bridge. Cutaneous involvement in sarcoidosis occurs in 25% of cases. Read More

    Categorisation of foot complaints in systemic lupus erythematosus (SLE) from a New Zealand cohort.
    J Foot Ankle Res 2017 26;10:33. Epub 2017 Jul 26.
    Health and Research Rehabilitation Institute and School of Podiatry, AUT University, Auckland, New Zealand.
    Background: Foot complaints have been shown to be common in systemic lupus erythematosus (SLE) and heterogeneous in nature. We aimed to categorize self-reported foot complaints in people with SLE and foot symptoms.

    Methods: A self-administered validated questionnaire was posted to 406 people with SLE attending adult rheumatology clinics across three health boards in Auckland, New Zealand. Read More

    Human urine-based therapeutics in Spain from the early 20th century to the present: a historical literature overview and a present-day case study.
    Acta Med Hist Adriat 2017 Jun;15(1):73-108
    Departamento de Terapéutica Médico-Quirúrgica, Facultad de Medicina, Universidad de Extremadura, Badajoz, Spain.
    Human urine is currently the subject of biomedical investigations as a potential therapeutic resource and it continues to be used in remedies in different cultures and societies, including the Spanish culture. In this study we gather etnomedical knowledge about urotherapy and determine their associated symbolisms in Spain. A literature overview and a case study were carried out to compile urine-based remedies and as a direct analysis of symbolic systems. Read More

    Efficacy and Tolerance of Anti-Tumor Necrosis Factor α Agents in Cutaneous Sarcoidosis: A French Study of 46 Cases.
    JAMA Dermatol 2017 Jul;153(7):681-685
    Department of Pneumology, APHP Hôpital Avicenne, Bobigny, France.
    Importance: Evidence for the long-term efficacy and safety of anti-tumor necrosis factor α agents (anti-TNF) in treating cutaneous sarcoidosis is lacking.

    Objective: To determine the efficacy and safety of anti-TNF in treating cutaneous sarcoidosis in a large observational study.

    Design, Setting, And Participants: STAT (Sarcoidosis Treated with Anti-TNF) is a French retrospective and prospective multicenter observational database that receives data from teaching hospitals and referral centers, as well as several pneumology, dermatology, and internal medicine departments. Read More

    Aicardi-Goutières syndrome: unusual neuro-radiological manifestations.
    Metab Brain Dis 2017 Jun 23;32(3):679-683. 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 Jun;76(5):382-390
    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

    Severe Pulmonary Fibrosis as the First Manifestation of Interferonopathy (TMEM173 Mutation).
    Chest 2016 Sep;150(3):e65-71
    Pediatric Pulmonology Department, Hôpital Femme-Mère-Enfant, Hospices civils de Lyon, UMR5558, Lyon, France. Electronic address:
    We report three cases of pulmonary disease suggesting fibrosis in two familial and one sporadic case. Pulmonary symptoms were associated with various clinical features of systemic inflammation and vasculitis involving the skin, and appeared at different ages. A strong interferon signature was found in all three cases. 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

    Familial chilblain lupus due to a gain-of-function mutation in STING.
    Ann Rheum Dis 2017 Feb 26;76(2):468-472. Epub 2016 Aug 26.
    Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
    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. 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 2017 Jul - Aug;13(4):227-229. 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

    A case of perniosis.
    Dermatol Online J 2016 Dec 15;22(12). Epub 2016 Dec 15.
    Ronald O. Perelman Department of Dermatology, NYU School of Medicine, NYU Langone Medical Center.
    Perniosis is a localized, inflammatory reaction that ischaracterized by erythematous papules and nodulesthat often are located on the acral surfaces in youngwomen. The lesions of perniosis are thought to bedue to cold-induced vasoconstriction that leadsto hypoxemia and inflammation of the vessel wall.Histopathologic and laboratory studies are indicatedfor patients with suspected perniosis to distinguishbetween idiopathic perniosis and secondaryperniosis. 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

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