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arteritis and autoinflammatory

Shigetsuna Komatsu, Masaru Honma, Satomi Igawa, Hitomi Tsuji, Akemi Ishida-Yamamoto, Kiyoshi Migita, Hiroaki Ida, Hajime Iizuka
Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease, which is characterized by recurrent and paroxysmal fever, peritonitis, arthritis, myalgia, and skin rashes. Although various skin lesions such as "erysipelas-like erythema", urticaria, nonspecific purpura, and subcutaneous nodules have been described, cutaneous vasculitis is rare. We report a Japanese case of sporadic FMF accompanied by cutaneous arteritis at the time of febrile attacks of FMF. Gene analysis revealed M694I mutation in a single allele of the MEFV gene, and oral colchicine successfully controlled both periodic fever and subcutaneous nodules of arteritis...
September 2014: Journal of Dermatology
Maria Teresa Terreri, Lúcia M A Campos, Eunice M Okuda, Clovis A Silva, Silvana B Sacchetti, Roberto Marini, Virginia P Ferriani, Maria Heloiza Ventura, Taciana Fernandes, Juliana O Sato, Elizabeth C Fernandes, Claudio Len, Cássia Barbosa, Ana Paola Lotito, Maria Carolina dos Santos, Nádia E Aikawa, Mércia Facó, Daniela Piotto, Vanessa Bugni, Kátia T Kozu, Paulo R Romanelli, Adriana M E Sallum, Marília Febronio, Melissa Fraga, Cláudia S Magalhães
INTRODUCTION: Paediatric rheumatology (PR) is an emerging specialty, practised by a limited number of specialists. Currently, there is neither a record of the profile of rheumatology patients being treated in Brazil nor data on the training of qualified rheumatology professionals in the country. OBJECTIVE: To investigate the profile of PR specialists and services, as well as the characteristics of paediatric patients with rheumatic diseases, for estimating the current state of rheumatology in the state of São Paulo...
August 2013: Revista Brasileira de Reumatologia
Yuzaburo Inoue, Yasushi Kawaguchi, Naoki Shimojo, Kenichi Yamaguchi, Yoshinori Morita, Taiji Nakano, Takayasu Arima, Minako Tomiita, Yoichi Kohno
Blau syndrome/early-onset sarcoidosis (Blau/EOS) is an autoinflammatory disease characterized by granulomatous arthritis, uveitis, and skin rash. It has been shown that gain-of-function NOD2 mutations cause Blau/EOS. In this paper, we describe a patient with a gain-of-function NOD2 mutation who developed infantile Takayasu arteritis, which is rare in Blau/EOS, but who has not yet had significant granulomatous changes in joints, eyes, or skin. We suspect that this case is an unusual phenotype of Blau/EOS.
July 2013: Modern Rheumatology
Figen Yargucu Zihni, Melike Kalfa, Pınar Talu Ocakçı, Figen Tarhan, Mustafa Parildar, Gokhan Keser, Kenan Aksu
Familial Mediterranean fever (FMF) is the most common autoinflammatory disease characterized by recurrent self-limited attacks of fever, accompanied with peritonitis, pleuritis or arthritis. It is well known that FMF may coexist with vasculitic pathologies, especially with those involving small and medium vessels. Among the vasculitic pathologies reported to be associated with FMF, Henoch-Schönlein purpura and polyarteritis nodosa come the first, possibly followed up by protracted febrile myalgia. However, coexistence of FMF with any large vessel vasculitis has not been reported to date...
June 2012: Rheumatology International
Kathleen M O'Neil
PURPOSE OF REVIEW: To examine recent advances in the pathophysiology and therapy of pediatric vasculitis. RECENT FINDINGS: The past 2 years have been marked by significant progress in extending novel techniques to the investigation of the two most common pediatric vasculitis syndromes, Henoch-Schonlein purpura and Kawasaki disease. Study of other vasculitides, such as Wegener granulomatosis, Churg-Strauss syndrome, and microscopic polyangiitis, is impeded by the small number of pediatric patients...
September 2009: Current Opinion in Rheumatology
A Grasland, G Galidie, M Grossin, P Vinceneux
INTRODUCTION: Usually, temporal arteritis progresses as a chronic disease. CASE REPORT: The authors report the observation of a 74-year-old woman who presented with two acute flares of temporal arteritis with headache, fever and inflammatory syndrome, which have spontaneously resolved. DISCUSSION: The observations of auto-inflammatory attacks of arteritis disease are rare, but maybe underestimated. The pathophysiology remains unclear.
June 2006: La Revue de Médecine Interne
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