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The multifaceted clinical presentations and manifestations of Erdheim-Chester disease: comprehensive review of the literature and of 10 new cases.
MedLine Citation:
PMID:  23396641     Owner:  NLM     Status:  Publisher    
OBJECTIVES: Erdheim-Chester disease (ECD) is a rare inflammatory disorder characterised by organ infiltration by non-Langerhans' histiocytes. Although rare, ECD is clearly an overlooked diagnosis. No data specifically addressing the most frequent presentations of ECD at the time of onset in a large cohort of patients are currently available. METHODS: We reviewed all the published cases in the English literature of histologically-confirmed ECD. We excluded reports in which data regarding onset and diagnosis were not univocal, as well as repeated reports of the same case(s). We also included in the analysis 10 new unpublished patients from our cohort. We analysed the disease presentation with particular regard to the manifestations that induced patients to seek medical attention and their subsequent evolution. RESULTS: In the cumulative cohort of 259 cases, ECD predominantly presented with skeletal symptoms, diabetes insipidus, neurological and constitutional symptoms. Diabetes insipidus and constitutional symptoms, if not present at onset, seemed to only seldom develop. There were differences in ECD presentation and course among different age groups of patients. CONCLUSIONS: Physicians should be aware of the extraordinarily heterogeneous clinical presentations and manifestations of ECD in order to include ECD in the differential diagnosis of several conditions.
Giulio Cavalli; Barbara Guglielmi; Alvise Berti; Corrado Campochiaro; Maria Grazia Sabbadini; Lorenzo Dagna
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-2-8
Journal Detail:
Title:  Annals of the rheumatic diseases     Volume:  -     ISSN:  1468-2060     ISO Abbreviation:  Ann. Rheum. Dis.     Publication Date:  2013 Feb 
Date Detail:
Created Date:  2013-2-11     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0372355     Medline TA:  Ann Rheum Dis     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
1 Vita-Salute San Raffaele University, Milan, Italy.
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