| Literature DB >> 29507032 |
Rita de Sousa Gameiro1, Ana Isabel Alves Reis1, Ana Cristina Grilo1, Carla Noronha1.
Abstract
Mixed connective tissue disease (MCDT) is a rare condition characterised by the presence of high titres of anti-U1 ribonucleoprotein antibodies and selected clinical features of systemic lupus erythematosus, systemic sclerosis and polymyositis/dermatomyositis. Early symptoms are non-specific, including easy fatigability, myalgia, arthralgia and Raynaud's phenomenon. Some reports emphasised the favourable outcome and excellent response to glucocorticoids, but there are contradictory studies reporting worse prognosis. Also, a subset of patients evolve into a clinical picture more consistent with a major diffuse connective tissue disease. We present the case of a 50-year-old black woman whose inaugural presentation of MCDT was oropharyngeal dysphagia, symmetrical proximal muscle weakness, tongue atrophy and skin sclerosis. High-dose corticosteroids and methotrexate were given with little improvement, maintaining disabling dysphagia leading to a percutaneous endoscopic gastrostomy tube placement. She was then started on intravenous immunoglobulin with progressive remission of symptoms. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.Entities:
Keywords: connective tissue disease; medical management; oesophagus
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Year: 2018 PMID: 29507032 PMCID: PMC5847916 DOI: 10.1136/bcr-2017-223699
Source DB: PubMed Journal: BMJ Case Rep ISSN: 1757-790X