573 results match your criteria Pernio


[Two cases of unilateral chilblains associated with monoparesis].

Ann Dermatol Venereol 2019 Mar 28. Epub 2019 Mar 28.

Médecine, Sorbonne université, 75013 Paris 06, France; Service de dermatologie, UF de dermatologie vasculaire, hôpital Tenon, AP-HP, 4, rue de la Chine, 75020 Paris, France.

Background: Chilblains are inflammatory dermal lesions associated with hypersensitivity to cold, and they occur on the extremities bilaterally and symmetrically. Their onset during the course of pro-thermogenic and autoimmune diseases has been widely reported, but the association with predisposing locoregional causes is not well known.

Patients And Methods: Case 1: a 57-year-old man, who smoked 80 packets per year, presenting a deficit of the levator muscles in his right foot following lumbar sciatica with paralysis of L5, consulted for unilateral necrotic lesions of the toes recurring each winter in the paralysed limb only. Read More

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http://dx.doi.org/10.1016/j.annder.2019.01.022DOI Listing
March 2019
5 Reads

Chilblain Lupus with Nail Involvement: A Case Report and a Brief Overview.

Skin Appendage Disord 2018 Nov 3;5(1):42-45. Epub 2018 May 3.

Dermatology Division, Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy.

Chilblain lupus erythematosus is a rare, chronic variant of cutaneous lupus erythematosus that occurs during cold or damp periods on the hands, fingers, or feet. It is often associated with other forms of cutaneous lupus and about 20% of patients develop systemic lupus erythematosus. Various medications have been put forward, including steroids, mycophenolate mofetil, calcium channel blockers, and hydroxychloroquine, but the symptoms do not remit completely. Read More

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http://dx.doi.org/10.1159/000488543DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323373PMC
November 2018
4 Reads

Ice pack-induced perniosis: a rare and underrecognized association.

Cutis 2018 Nov;102(5):E24-E26

Western University of Health Sciences, Long Beach, California, USA.

Perniosis, or chilblain, is characterized by skin lesions that occur as an abnormal reaction to exposure to cold and damp conditions. It can present as an idiopathic dermatosis or in association with an underlying connective tissue or autoimmune disease. Differentiation by histopathologic examination is controversial. Read More

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November 2018
3 Reads

Analysis of finger vein variety in patients with various diseases using vein authentication technology.

J Biophotonics 2019 Apr 6;12(4):e201800354. Epub 2019 Jan 6.

Department of Dermatology and Allergology, Juntendo University Graduate School of Medicine, Tokyo, Japan.

In finger vein authentication technology, near-infrared rays penetrate the finger and are absorbed by the hemoglobin in blood. The veins appear as dark areas. The finger vein pattern images of patients with various diseases were acquired; a new evaluation method applying image processing technique ("E value") was developed, and it was examined whether the patterns have any characteristics differentiating them from those of healthy volunteers. Read More

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http://dx.doi.org/10.1002/jbio.201800354DOI Listing
April 2019
4 Reads

Lupus pernio (Besnier-Tenneson syndrome): A rare form of sarcoidosis.

Dermatol Reports 2018 Oct 1;10(2):7696. Epub 2018 Oct 1.

Hospital of Skin and Venereal Disease Hospital named after VA Rakhmanov. I.M. Sechenov First Moscow State Medical University, Moscow, Russia.

Lupus pernio (LP) is a chronic non-life threatining type of cutaneous sarcoidosis that can be related to chronic fibrotic sarcoidosis, hyperglobulinemia and hypercalcemia. The aim of this case report is to evaluate the clinical and demographic features of cutaneous sarcoidosis mainly presenting with a rare manifestation of LP. In this paper we report a case of systemic sarcoidosis presenting with LP and a review of the available literature. Read More

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http://dx.doi.org/10.4081/dr.2018.7696DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6250080PMC
October 2018
8 Reads

Acral coldness - severely reduced blood flow to fingers and toes.

Handb Clin Neurol 2018 ;157:677-685

Department of Physiology, Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway. Electronic address:

The term acral coldness is used to describe physiologic or pathologic situations in humans where the fingers and toes are exceptionally cold in spite of normal central body temperature. In the thermoneutral zone, the blood flow to acral skin normally shows large fluctuations between high and low values, with a frequency of about 3 cycles per minute. At an acral skin temperature of about 21°C, finger blood flow is constantly low. Read More

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http://dx.doi.org/10.1016/B978-0-444-64074-1.00040-9DOI Listing
March 2019
17 Reads

Foot and ankle characteristics in systemic lupus erythematosus: A systematic review and meta-analysis.

Semin Arthritis Rheum 2019 04 6;48(5):847-859. Epub 2018 Aug 6.

Health and Rehabilitation Research Institute, Auckland University of Technology, Private Bag 92006, Auckland 1142, New Zealand.

Objective: To determine characteristics of the foot and ankle in people with systemic lupus erythematosus (SLE).

Methods: Medline, CINAHL, Sports-Discus, Scopus and Cochrane Library databases were searched up to January 2018. Studies reporting foot- and ankle-related outcomes in the following domains were included: vascular, neurological, musculoskeletal, cutaneous (skin and nail) or pain/function. Read More

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http://dx.doi.org/10.1016/j.semarthrit.2018.07.002DOI Listing
April 2019
4 Reads

Chilblain lupus erythematosus presenting with bilateral hemorrhagic bullae of distal halluces.

Cutis 2018 06;101(6):E16-E18

Department of Medicine, Division of Dermatology, University of California, Los Angeles, USA.

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June 2018
2 Reads

Chilblains accompanying interleukin-1 receptor-associated kinase (IRAK)-4 deficiency.

Clin Exp Dermatol 2018 Jul 20;43(5):596-597. Epub 2018 May 20.

Dermatology Department, Norfolk and Norwich University Hospital, Norwich, UK.

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http://dx.doi.org/10.1111/ced.13621DOI Listing
July 2018
2 Reads

Dyschromatosis symmetrica hereditaria with chilblains due to a novel two-amino-acid deletion in the double-stranded RNA-binding domain of ADAR1.

J Eur Acad Dermatol Venereol 2018 Oct 11;32(10):e394-e396. Epub 2018 Jun 11.

Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.

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http://dx.doi.org/10.1111/jdv.15076DOI Listing
October 2018
3 Reads

Bilateral "turkey ear" as a cutaneous manifestation of lupus vulgaris.

Indian J Dermatol Venereol Leprol 2018 Nov-Dec;84(6):687-689

Department of Dermatology, The First Bethune Hospital of Jilin University, Changchun, China.

Lupus vulgaris is a common form of cutaneous tuberculosis in China, mostly involving the head and neck region. Turkey ear is a clinically descriptive term, used for a massively enlarged earlobe with bluish-red or violaceous indurated plaques and nodules, which can be a sign of lupus vulgaris. A 47-year-old female presented with edema and reddish ulcerated lesions on both ears which was diagnosed as lupus vulgaris by conventional laboratory investigations and the patient showed good response to antituberculous therapy. Read More

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http://dx.doi.org/10.4103/ijdvl.IJDVL_330_17DOI Listing
January 2019
5 Reads

Cutaneous Manifestations of Chronic Vascular Disease.

Authors:
Steven M Dean

Prog Cardiovasc Dis 2018 Mar - Apr;60(6):567-579. Epub 2018 Mar 10.

Division of Cardiovascular Medicine, Ohio State University Wexner Medical Center, Columbus, OH. Electronic address:

In the contemporary era of medical diagnosis via sophisticated radiographic imaging and/or comprehensive serological testing, a focused physical examination remains paramount in recognizing the cutaneous manifestations of chronic vascular disease. Recognition of the unique cutaneous signs of lymphatic and venous hypertension assists in the diagnosis as well as the staging and classification of both lymphedema and chronic venous insufficiency. Awareness of explicit dermatologic vasomotor manifestations aids not only in the identification of acrocyanosis, Raynaud phenomenon, pernio, and erythromelalgia but also mitigates confusion related to their clinical overlap. Read More

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http://dx.doi.org/10.1016/j.pcad.2018.03.004DOI Listing
October 2018
10 Reads

Drug-induced Rowell syndrome, a rare and difficult to manage disease: A case report.

Exp Ther Med 2018 Jan 23;15(1):785-788. Epub 2017 Nov 23.

Department of Ophthalmology, Grigore T. Popa University of Medicine and Pharmacy, 700715 Iași, Romania.

Rowell syndrome is defined as the association between lupus erythematosus, erythema multiforme-like lesions and characteristic immunological changes including positive tests for rheumatoid factor, speckled antinuclear antibody, positive anti-Ro or anti-La antibodies. The present report presents the case of a 45-year-old female patient who was previously diagnosed in January 2010 with terbinafine-induced subacute cutaneous lupus erythematosus and was admitted for a skin eruption consisting of erythematous-papular erythema multiforme-like lesions, primarily on the trunk and limbs. The associated symptoms consisted of fatigability, myalgia and gonalgia. Read More

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http://dx.doi.org/10.3892/etm.2017.5557DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777104PMC
January 2018
24 Reads

Osseous sarcoidosis with lupus pernio.

Indian J Med Res 2017 10;146(4):548-549

Department of Internal Medicine, Christian Medical College & Hospital, Vellore 632 004, Tamil Nadu, India.

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http://dx.doi.org/10.4103/ijmr.IJMR_1123_16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5819040PMC
October 2017
12 Reads

[Renaissance medicine and the discovery of the lesser circulation: the role of Michael Servetus (1511-1553)].

Acta Med Hist Adriat 2017 Dec;15(2):271-282

Dipartimento di Scienze della Salute, Sezione di Storia della Medicina ed Etica, Università di Genova, Genova, Italia.

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

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December 2017
3 Reads

Aicardi-Goutières syndrome: cold-induced acral blemish is not always cryoglobulinaemic vasculitis or chilblain lupus.

Clin Exp Dermatol 2018 Jun 17;43(4):488-490. Epub 2018 Jan 17.

Department of Neuroradiology, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.1111/ced.13376DOI Listing
June 2018
7 Reads

Idiopathic chilblains in myelomonocytic leukemia: not a simple association.

Int J Dermatol 2018 May 10;57(5):596-598. Epub 2018 Jan 10.

Dipartimento di Fisiopatologia e dei Trapianti, University of Milan - Dermatology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1111/ijd.13896DOI Listing
May 2018
6 Reads

Recurrent chilblains in a child with neurological impairment.

Clin Exp Dermatol 2018 Jun 26;43(4):500-502. Epub 2017 Dec 26.

Department of Dermatology, Royal Derby Hospital, Derby, UK.

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http://dx.doi.org/10.1111/ced.13330DOI Listing
June 2018
8 Reads

Pernio as the presenting sign of blast crisis in acute lymphoblastic leukemia.

Pediatr Dermatol 2018 Jan 12;35(1):e74-e75. Epub 2017 Dec 12.

Division of Dermatology, Loyola University Medical Center, Maywood, IL, USA.

A previously healthy 5-year-old girl presented with acute onset of blue toes and red spots on the nose and fingers. The striking nature of these lesions, along with the finding of submandibular lymphadenopathy, prompted further evaluation. Laboratory findings were remarkable for anemia, high transaminase levels, and high blast count. Read More

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http://dx.doi.org/10.1111/pde.13366DOI Listing
January 2018
11 Reads

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

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http://dx.doi.org/10.1016/j.jcot.2017.05.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5647685PMC
June 2017
3 Reads

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

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http://dx.doi.org/10.4103/ijd.IJD_420_16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5618855PMC
October 2017
10 Reads

A homozygote TREX1 mutation in two siblings with different phenotypes: Chilblains and cerebral vasculitis.

Eur J Med Genet 2017 Dec 13;60(12):690-694. 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

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http://dx.doi.org/10.1016/j.ejmg.2017.09.004DOI Listing
December 2017
15 Reads

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

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http://dx.doi.org/10.1007/s11936-017-0579-6DOI Listing
September 2017
13 Reads

Familial Chilblain Lupus - What Can We Learn from Type I Interferonopathies?

Authors:
Christoph Fiehn

Curr Rheumatol Rep 2017 Aug 26;19(10):61. Epub 2017 Aug 26.

Unit for Rheumatology and Clinical Immunology, Medical Center Baden-Baden, Beethovenstr.2, 76530, Baden-Baden, Germany.

Purpose Of Review: Familial chilblain lupus belongs to the group of type I interferonopathies and is characterized by typical skin manifestations and acral ischaemia. This review aims to give an overview of clinical signs and the pathophysiological mechanisms.

Recent Findings: There are several mutations that can lead to this autosomal dominant disease. Read More

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http://dx.doi.org/10.1007/s11926-017-0689-xDOI Listing
August 2017
26 Reads

Methods of Assessing STING Activation and Trafficking.

Methods Mol Biol 2017 ;1656:167-174

Department of Microbiology, University of Texas Southwestern Medical Center, Dallas, TX, USA.

The signaling adapter protein STING is crucial for the host immune response to cytosolic DNA and cyclic dinucleotides. Under basal conditions, STING resides on the endoplasmic reticulum (ER ) , but upon activation, it traffics through secretory pathway to cytoplasmic vesicles, where STING activates downstream immune signaling. Classical STING activation and trafficking are triggered by binding of cyclic dinucleotide ligands. Read More

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http://dx.doi.org/10.1007/978-1-4939-7237-1_10DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5715460PMC
April 2018
3 Reads

Chilblain lupus and steroid-responsive pancytopenia precede monosomy 7-linked AML as manifestation of rasopathy.

Pediatr Blood Cancer 2017 12 12;64(12). Epub 2017 Aug 12.

Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical University Graz, Graz, Austria.

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http://dx.doi.org/10.1002/pbc.26724DOI Listing
December 2017
1 Read

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

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http://dx.doi.org/10.4082/kjfm.2017.38.4.226DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5541171PMC
July 2017
4 Reads

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

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http://dx.doi.org/10.1186/s13047-017-0217-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5530459PMC
February 2018
7 Reads

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

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June 2017
7 Reads

Comparative Analysis of Chilblain Lupus Erythematosus and Idiopathic Perniosis: Histopathologic Features and Immunohistochemistry for CD123 and CD30.

Am J Dermatopathol 2018 Apr;40(4):265-271

Departments of Pathology, and.

Distinction of chilblain lupus erythematosus (CLE) from idiopathic perniosis (IP) could predict an underlying connective tissue disease; however, histopathologic discrimination of the two is difficult. Increased CD123 plasmacytoid dendritic cells and CD30 lymphocytes have been demonstrated in various forms of cutaneous lupus erythematosus and IP, respectively. To our knowledge, CD123 and CD30 have not been examined in CLE. Read More

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http://dx.doi.org/10.1097/DAD.0000000000000945DOI Listing
April 2018
13 Reads

Efficacy and Tolerance of Anti-Tumor Necrosis Factor α Agents in Cutaneous Sarcoidosis: A French Study of 46 Cases.

JAMA Dermatol 2017 07;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

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http://dx.doi.org/10.1001/jamadermatol.2017.1162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5817458PMC
July 2017
81 Reads

[Familial chilblain lupus : Type 1 interferonopathy with model character].

Authors:
C Fiehn

Z Rheumatol 2017 May;76(4):322-327

ACURA-Rheumazentrum Baden-Baden, Rotenbachtalstr. 5, 76530, Baden-Baden, Deutschland.

Familial chilblain lupus belongs to the group of type 1 interferonopathies and is particularly characterized by typical skin manifestations and ischemia of the acra. There are various mutations that can lead to this autosomal dominant disease. A mutation in the TREX-1 gene has been most frequently found; however, families with mutations in the SAMHD1 gene and recently in the gene which codes for the stimulator of interferon genes (STING) protein were also described. Read More

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http://dx.doi.org/10.1007/s00393-017-0285-5DOI Listing
May 2017
1 Read

Chilblain lupus erythematosus treated successfully with mycophenolate mofetil.

Int J Dermatol 2017 08 27;56(8):e158-e159. Epub 2017 Mar 27.

Dermatology Department, Centre Hospitalier Lyon Sud, Pierre-Bénite, Lyon 1 University, France.

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http://dx.doi.org/10.1111/ijd.13614DOI Listing
August 2017
6 Reads

Aicardi-Goutières syndrome: unusual neuro-radiological manifestations.

Metab Brain Dis 2017 06 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

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http://dx.doi.org/10.1007/s11011-017-9993-4DOI Listing
June 2017
37 Reads
2.638 Impact Factor

[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

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http://dx.doi.org/10.1007/s00393-017-0290-8DOI Listing
June 2017
1 Read

High Altitude Dermatology.

Authors:
Lt Col G K Singh

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

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http://dx.doi.org/10.4103/0019-5154.198050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5286755PMC
February 2017
15 Reads

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

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http://dx.doi.org/10.3399/bjgp17X689413DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5325660PMC
March 2017
10 Reads

Rowell's Syndrome or subacute cutaneous lupus erythematosus?

G Ital Dermatol Venereol 2017 02;152(1):82-83

Section of Dermatology, Department of Surgery and Translational Medicine, University of Florence, Florence, Italy.

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http://dx.doi.org/10.23736/S0392-0488.16.05173-7DOI Listing
February 2017
5 Reads

Response to: 'JAK inhibition in STING-associated interferonopathy' by Crow et al.

Ann Rheum Dis 2016 12 3;75(12):e76. Epub 2016 Nov 3.

Molecular Pediatrics, Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

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http://dx.doi.org/10.1136/annrheumdis-2016-210565DOI Listing
December 2016
4 Reads

Cold-associated perniosis of the thighs histopathologically mimicking lupus. Six observations.

J Eur Acad Dermatol Venereol 2017 Jun 21;31(6):1029-1032. Epub 2016 Oct 21.

Service de dermatologie, Hôpital Henri Mondor, Assistance Publique-Hôpitaux de Paris, Créteil, France.

Background: Equestrian cold panniculitis has been described since 1980 in horse riders or in stable employees. Histological aspect is underdescribed.

Patients And Methods: We describe clinical and histological features of six horse riding or stable employees patients presenting with upper lateral thigh lesions during the winter months between 2014 and 2016 in our dermatological department. Read More

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http://dx.doi.org/10.1111/jdv.13969DOI Listing

Polycyclic Eruption of the Thighs.

JAMA Dermatol 2017 01;153(1):83-84

Department of Pathology, Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, New York.

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http://dx.doi.org/10.1001/jamadermatol.2016.3354DOI Listing
January 2017

Nifedipine vs Placebo for Treatment of Chronic Chilblains: A Randomized Controlled Trial.

Ann Fam Med 2016 09;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

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http://dx.doi.org/10.1370/afm.1966DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5394377PMC
September 2016
2 Reads

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

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http://dx.doi.org/10.1016/j.chest.2016.02.682DOI Listing
September 2016
26 Reads

The importance of chilblains as a diagnostic clue for mild Aicardi-Goutières syndrome.

Am J Med Genet A 2016 12 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

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http://dx.doi.org/10.1002/ajmg.a.37944DOI Listing
December 2016
4 Reads

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

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http://dx.doi.org/10.1136/annrheumdis-2016-209841DOI Listing
February 2017
13 Reads

Phenotypic familial aggregation in chronic chilblains.

Fam Pract 2016 10 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

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http://dx.doi.org/10.1093/fampra/cmw052DOI Listing
October 2016
5 Reads

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

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http://dx.doi.org/10.1186/s12969-016-0094-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4893274PMC
June 2016
7 Reads

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

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http://dx.doi.org/10.1016/j.rmcr.2015.11.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821248PMC
May 2016
11 Reads