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https://www.readbyqxmd.com/read/28523199/de-novo-pten-mutation-in-a-young-boy-with-cutaneous-vasculitis
#1
Angela Mauro, Ebun Omoyinmi, Neil James Sebire, Angela Barnicoat, Paul Brogan
Phosphatase and tensin homolog (PTEN) is the protein encoded by the PTEN gene (10q23.3). PTEN mutations are related to a variety of rare diseases referred to collectively as PTEN hamartoma tumor syndromes (PHTS), which include Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus Syndrome, and Proteus-like syndrome. These diseases are associated with an increased risk of malignancy and for this reason an accurate and early diagnosis is essential in order to institute cancer surveillance. PTEN is a regulator of growth and homeostasis in immune system cells, although there are limited data describing immune dysregulation caused by PTEN mutations...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28516235/clinical-imaging-and-genotypical-features-of-three-deceased-and-five-surviving-cases-with-ada2-deficiency
#2
Sezgin Sahin, Amra Adrovic, Kenan Barut, Serdal Ugurlu, Eda Tahir Turanli, Huri Ozdogan, Ozgur Kasapcopur
Deficiency of adenosine deaminase type 2 (DADA2) is a rare form of autoinflammatory disorder with limited reported cases. In this paper, we have presented the clinico-immunological, radiological and genetic characteristics of five surviving and three deceased childhood-onset DADA2 patients. We aimed to compare surviving and deceased patients in terms of clinical features and treatment modalities. Moreover, we have evaluated the causes of death in our DADA2 subjects together with the previously reported cases...
May 17, 2017: Rheumatology International
https://www.readbyqxmd.com/read/28512743/proteinase-3-antineutrophil-cytoplasmic-antibody-associated-cutaneous-vasculitis-without-systemic-involvement
#3
A Brown, R E Watchorn, N J Cope, A M R Downs
No abstract text is available yet for this article.
May 17, 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/28507487/demographic-characteristics-aetiology-and-assessment-of-treatment-options-in-leukocytoclastic-vasculitis
#4
Alkim Unal Cakiter, Ozlem Su Kucuk, Dilek Biyik Ozkaya, Bugce Topukcu, Nahide Onsun
INTRODUCTION: Vasculitides are a heterogeneous group of diseases characterized by inflammation of the blood vessel walls. Etiological factors include infections, drugs, connective tissue diseases, and malignancies. AIM: To examine the demographic characteristics, etiological factors, and treatment options in 75 patients with leukocytoclastic vasculitis. MATERIAL AND METHODS: The study included 75 patients diagnosed with leukocytoclastic vasculitis at our clinic...
April 2017: Postȩpy Dermatologii i Alergologii
https://www.readbyqxmd.com/read/28491333/burkholderia-cepacia-complex-and-limited-cutaneous-vasculitis-in-patients-with-cystic-fibrosis-a-case-series
#5
Muttardi Kayria, Orchard Chris, Devesh J Dhasmana, Morar Nilesh, Margaret E Hodson, Gyi Khin, Bilton Diana, Nicholas J Simmonds
There is a high association of reactive skin presentations, mainly limited cutaneous vasculitis in patients with cystic fibrosis and Burkholderia cepcia complex chronic infection. This may be due to raised levels of circulating inflammatory mediators.
April 2017: JRSM Open
https://www.readbyqxmd.com/read/28490787/the-changing-face-of-polyarteritis-nodosa-and-necrotizing-vasculitis
#6
REVIEW
Seza Ozen
Polyarteritis nodosa (PAN) is a vasculitic disease characterized primarily by necrotizing vasculitis - inflammatory lesions in blood vessels that lead to vessel wall necrosis. Our understanding of PAN and necrotizing vasculitis has evolved over time. In addition to PAN, necrotizing vasculitis is now a recognized feature of a broad range of diseases with different aetiopathogenesis. For example, necrotizing vasculitis associated with hepatitis B virus infection has a different aetiopathogeneis to PAN and is now classified as a separate disease...
May 11, 2017: Nature Reviews. Rheumatology
https://www.readbyqxmd.com/read/28489260/histologic-changes-associated-with-talaporfin-sodium-mediated-photodynamic-therapy-in-rat-skin
#7
Wesley J Moy, Jonathan Yao, Sébastien M de Feraudy, Sean M White, Jocelynda Salvador, Kristen M Kelly, Bernard Choi
BACKGROUND AND OBJECTIVE: Alternative treatments are needed to achieve consistent and more complete port wine stain (PWS) removal, especially in darker skin types; photodynamic therapy (PDT) is a promising alternative treatment. To this end, we previously reported on Talaporfin Sodium (TS)-mediated PDT. It is essential to understand treatment tissue effects to design a protocol that will achieve selective vascular injury without ulceration and scarring. The objective of this work is to assess skin changes associated with TS-mediated PDT with clinically relevant treatment parameters...
May 10, 2017: Lasers in Surgery and Medicine
https://www.readbyqxmd.com/read/28461812/refractory-cutaneous-iga-vasculitis-treated-with-omega-3-fatty-acids
#8
M A Barnadas, M M Díaz Encarnación
BACKGROUND: Omega-3 fatty acids (O3FA) have been used to treat IgA nephropathy (IgAN) but not cutaneous IgA vasculitis (IgAV). CASE REPORT: A 47-year-old female was referred for cutaneous vasculitis. She had a 24-year history of flares of palpable purpura, arthralgia associated with hematuria, and proteinuria. We diagnosed cutaneous IgAV associated with IgAN. We administered prednisone at doses ranging from 10 to 45 mg/day to control the flares. To reduce prednisone exposure, different therapeutic strategies (colchicine, diphenhydramine, hydroxyzine, azathioprine, benzathine penicillin, and mycophenolate mofetil) were applied without success...
September 2016: Case Reports in Dermatology
https://www.readbyqxmd.com/read/28458437/levetiracetam-induced-leukocytoclastic-vasculitis
#9
Mrinal Gupta
Drug-induced leukocytoclastic vasculitis is a small-vessel vasculitis that most commonly manifests with palpable purpuric lesions on gravity-dependent areas. Vasculitis occurs within weeks after initial administration of medication and demonstrates clearance upon withdrawal of medication. Levetiracetam, a pyrrolidone derivative, is used as an adjunctive therapy in patients with refractory focal epilepsy, myoclonic epilepsy, and primary generalized tonic-clonic seizures. We present a case of a 14-year-old female, who developed cutaneous small-vessel vasculitis within 8 days of initiation of levetiracetam...
January 2017: Indian Journal of Pharmacology
https://www.readbyqxmd.com/read/28450854/microbial-disease-spectrum-linked-to-a-novel-il-12r%C3%AE-1-n-terminal-signal-peptide-stop-gain-homozygous-mutation-with-paradoxical-receptor-cell-surface-expression
#10
Thais Louvain de Souza, Regina C de Souza Campos Fernandes, Juliana Azevedo da Silva, Vladimir Gomes Alves Júnior, Adelia Gomes Coelho, Afonso C Souza Faria, Nabia M Moreira Salomão Simão, João T Souto Filho, Caroline Deswarte, Stéphanie Boisson-Dupuis, Dara Torgerson, Jean-Laurent Casanova, Jacinta Bustamante, Enrique Medina-Acosta
Patients with Mendelian Susceptibility to Mycobacterial Diseases (MSMD) exhibit variable vulnerability to infections by mycobacteria and other intramacrophagic bacteria (e.g., Salmonella and Klebsiella) and fungi (e.g., Histoplasma, Candida, Paracoccidioides, Coccidioides, and Cryptococcus). The hallmark of MSMD is the inherited impaired production of interferon gamma (IFN-γ) or the lack of response to it. Mutations in the interleukin (IL)-12 receptor subunit beta 1 (IL12RB1) gene accounts for 38% of cases of MSMD...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28447661/the-nonsystemic-vasculitic-neuropathies
#11
REVIEW
Michael P Collins, Robert D Hadden
Nonsystemic vasculitic neuropathy (NSVN) is an under-recognized single-organ vasculitis of peripheral nerves that can only be diagnosed with a nerve biopsy. A Peripheral Nerve Society guideline group published consensus recommendations on the classification, diagnosis and treatment of NSVN in 2010, and new diagnostic criteria for vasculitic neuropathy were developed by the Brighton Collaboration in 2015. In this Review, we provide an update on the classification, diagnosis and treatment of NSVN. NSVN subtypes include Wartenberg migratory sensory neuropathy and postsurgical inflammatory neuropathy...
April 27, 2017: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/28444097/chronic-polyarthritis-as-the-first-manifestation-of-childhood-systemic-polyarteritis-nodosa
#12
Glaucia Vanessa Novak, Koken Hayashi, Kohei Sampa, Yosuke Okumura, Gabriela Ribeiro Viola Ferreira, Clovis Artur Silva
Arthritis has been reported as an acute pattern, generally evanescent with oligoarthritis, mostly affecting knees and ankles in childhood systemic polyarteritis nodosa. However, chronic polyarthritis with morning stiffness mimicking juvenile idiopathic arthritis has not been reported. We describe the case of a 4-year old girl who had additive and chronic polyarthritis with edema, tenderness, pain on motion and morning stiffness for 2 months. After 45 days, she also presented painful subcutaneous nodules and erythematous-violaceous lesions in the extensor region of upper and lower limbs...
January 2017: Einstein
https://www.readbyqxmd.com/read/28442517/red-blood-cell-distribution-width-and-neutrophil-to-lymphocyte-ratio-in-patients-with-cutaneous-vasculitis
#13
Nazan Emiroglu, Fatma Pelin Cengiz, Anıl Gulsel Bahalı, Dilek Biyik Ozkaya, Ozlem Su, Nahide Onsun
BACKGROUND: Vasculitis represents a specific pattern of inflammation of the blood vessel wall that can occur in any organ system of the body. The neutrophil to lymphocyte ratio (NLR) and red blood cell distribution width (RDW) are currently used as markers of inflammation in several diseases. OBJECTIVES: This study analyzed C-reactive protein level (CRP), erythrocyte sedimentation rate (ESR), white blood cell (WBC), NLR, and RDW in patients who had cutaneous vasculitis, or cutaneous vasculitis with systemic involvement, and in healthy controls...
March 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/28438264/vasculitis-with-lesions-on-the-scalp-as-the-only-cutaneous-manifestation
#14
F C Benavente Villegas, J M Sánchez Motilla, N Rausell Fontestad
No abstract text is available yet for this article.
April 21, 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/28420068/pentraxin-3-levels-are-associated-with-vasculitis-and-disease-activity-in-childhood-onset-systemic-lupus-erythematosus
#15
S Sahin, A Adrovic, K Barut, S Durmus, R Gelisgen, H Uzun, O Kasapcopur
Objectives Childhood-onset systemic lupus erythematosus (cSLE) is a multisystemic autoimmune disease characterized by inflammatory organ damage by means of vasculitis. Pentraxin-3 (PTX3) is expressed locally at the sites of inflammatory processes, predominantly from endothelial cells. In adult studies, PTX3 has shown to be an indicator of active vasculitis both in large-vessel and small-vessel vasculitides, as well as in SLE. Moreover, in SLE it has found to be correlated with disease activity, and with some of the clinical manifestations and laboratory parameters...
January 1, 2017: Lupus
https://www.readbyqxmd.com/read/28416962/cutaneous-leukocytoclastic-vasculitis-with-gastrointestinal-involvement-after-anti-tuberculosis-treatment
#16
Sangwoo Shim, Chi Young Jung
No abstract text is available yet for this article.
April 2017: Tuberculosis and Respiratory Diseases
https://www.readbyqxmd.com/read/28405546/arthropathy-in-dermatology-a-comprehensive-review
#17
REVIEW
Soumya Jagadeesan, Padmanabha Shenoy
Dermatology and rheumatology are two specialties that deal with significant overlap. In this context, it is important that the dermatologists acquaint themselves with conditions presenting with arthropathy. As the first step, it is essential to know whether the origin of musculoskeletal symptom is articular or extra-articular; inflammatory or noninflammatory; acute or chronic; oligo- or poly-articular. This will help in narrowing down the differential diagnoses as well as in better correlation with the cutaneous symptoms...
March 2017: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/28398413/imatinib-mesylate-induced-lichenoid-drug-eruption
#18
Erin H Penn, Hye Jin Chung, Matthew Keller
Imatinib mesylate (imatinib) is a tyrosine kinase inhibitor initially approved by the US Food and Drug Administration in 2001 for chronic myeloid leukemia (CML). Since then, the number of indicated uses for imatinib has substantially increased. It is increasingly important that dermatologists recognize adverse cutaneous manifestations of imatinib and are aware of their management and outcomes to avoid unnecessarily discontinuing a potentially lifesaving medication. Adverse cutaneous manifestations in response to imat-inib are not infrequent and can include dry skin, alopecia, facial edema, and photosensitivity rash...
March 2017: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/28397288/extensive-levamisole-induced-vasculitis
#19
C Desvignes, C Becquart, D Launay, L Terriou, P Patenotre, S Deheul, G Peytavin, N Dupin, E Delaporte, D Staumont-Sallé
Levamisole (an increasingly frequent contaminant of cocaine) can cause antineutrophil cytoplasmic antibody-associated vasculitis. Dermatologists should consider a diagnosis of cocaine/levamisole-associated cutaneous vasculopathy syndrome in cases of purpura of the ears and/or extensive retiform purpura in drug users. We report a case of particularly severe levamisole-induced necrotic purpura and immunological abnormalities in a 40-year-old woman.
April 10, 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/28374407/cutaneous-manifestations-of-diabetes-mellitus-a-review
#20
REVIEW
Ana Luiza Lima, Tanja Illing, Sibylle Schliemann, Peter Elsner
Diabetes mellitus is a widespread endocrine disease with severe impact on health systems worldwide. Increased serum glucose causes damage to a wide range of cell types, including endothelial cells, neurons, and renal cells, but also keratinocytes and fibroblasts. Skin disorders can be found in about one third of all people with diabetes and frequently occur before the diagnosis, thus playing an important role in the initial recognition of underlying disease. Noninfectious as well as infectious diseases have been described as dermatologic manifestations of diabetes mellitus...
April 3, 2017: American Journal of Clinical Dermatology
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