Literature DB >> 18955195

Leg ulcers: a new symptom of Blau syndrome?

Veerle Dhondt1, Sarah Hofman, Karin Dahan, Hilde Beele.   

Abstract

Blau syndrome is a rare autosomal dominant condition, typically defined by granulomatous polyarthritis, uveitis and skin eruption. Biopsy specimens demonstrate non-caseating granulomas in all lesions. We present a case of Blau syndrome associated with large recalcitrant leg ulcers. Biopsies taken in the leg ulcers of our patient systematically showed granulomas. Although leg ulcers have not previously been described as a part of Blau syndrome, we assume that the ulcerations in this case form part of Blau syndrome.

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Year:  2008        PMID: 18955195     DOI: 10.1684/ejd.2008.0510

Source DB:  PubMed          Journal:  Eur J Dermatol        ISSN: 1167-1122            Impact factor:   3.328


  5 in total

Review 1.  Autoinflammation: From monogenic syndromes to common skin diseases.

Authors:  Tien V Nguyen; Edward W Cowen; Kieron S Leslie
Journal:  J Am Acad Dermatol       Date:  2013-02-28       Impact factor: 11.527

Review 2.  Early-onset sarcoidosis caused by a rare CARD15/NOD2 de novo mutation and responsive to infliximab: a case report with long-term follow-up and review of the literature.

Authors:  Francesco La Torre; Giovanni Lapadula; Luca Cantarini; Orso Maria Lucherini; Florenzo Iannone
Journal:  Clin Rheumatol       Date:  2014-01-21       Impact factor: 2.980

3.  NOD2/CARD15 gene mutation identified in a Chinese family with Blau syndrome.

Authors:  Haotian Xiang; Ting Zhang; Mengping Chen; Xiaomin Zhou; Zhen Li; Naihong Yan; Shiguang Li; Yu Han; Qiyong Gong; Xuyang Liu
Journal:  Mol Vis       Date:  2012-03-09       Impact factor: 2.367

Review 4.  Dermatologic and Dermatopathologic Features of Monogenic Autoinflammatory Diseases.

Authors:  Ignasi Figueras-Nart; José M Mascaró; Xavier Solanich; José Hernández-Rodríguez
Journal:  Front Immunol       Date:  2019-10-29       Impact factor: 7.561

Review 5.  Autoinflammatory granulomatous diseases: from Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn's disease.

Authors:  Francesco Caso; Paola Galozzi; Luisa Costa; Paolo Sfriso; Luca Cantarini; Leonardo Punzi
Journal:  RMD Open       Date:  2015-07-20
  5 in total

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