Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0034067 (emphysema)
 11,506 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Systemic sclerosis (SSc) sine scleroderma (ssSSc) is characterized by the absence of skin involvement, despite other manifestations of systemic sclerosis are present. It is not known whether sSSc represents a forme fruste of limited cutaneous SSc or a distinct entity, but the 2013 American College of Rheumatology/European League Against Rheumatism criteria for the classification of SSc have considered SSc without skin involvement to be a distinct subset. The authors present the case of a 70-year old female that was referred for a consultation for Raynaud's phenomenon and a chronic anterior uveitis (CAU). She had a history of dysphagia, diffuse pulmonary emphysema and a biopsy-documented fibrosis of the upper lobes, and an idiopathic non-ischemic dilated cardiomyopathy with severe left ventricle systolic dysfunction and left bundle branch block. Anti-nuclear and anti-centromere antibodies were positive, while manometry revealed distal esophageal hypomotility. After establishing the diagnosis of ssSSc and starting immunosuppression, the ocular disease improved, while the lung and heart diseases remained stable. This case underlines that it is very important to suspect SSc when CAU is present and/or skin thickening is absent. To our knowledge, this is the first report of CAU in a patient with ssSSc.
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PMID:Systemic sclerosis sine scleroderma: a case report of anterior uveitis. 2615 Feb 71

A 75-year-old woman was referred to our hospital with the chief symptom of dyspnea. Chest computed tomography revealed lymphadenopathy, emphysema, and honeycombing. Sarcoidosis was diagnosed due to an elevated serum ACE level and the findings of a lymph-node biopsy. Her smoking history, radiography findings, and impaired gas exchange indicated combined pulmonary fibrosis and emphysema (CPFE). Raynaud's phenomenon gradually appeared, and we also diagnosed her with systemic sclerosis (SSc). Right heart catheterization revealed pulmonary hypertension (PH). Smoking was assumed to be the chief cause, but SSc may also induce the development of CPFE. Severe PH induced by CPFE or SSc was present, but the influence of sarcoidosis also could not be ignored.
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PMID:Concomitant Systemic Sclerosis and Sarcoidosis with Combined Pulmonary Fibrosis and Emphysema. 2718 42