title: Erdheim-Chester disease: pulmonary presentation in a case with advanced systemic involvement.
abstract: Erdheim-Chester disease (ECD) is a non-Langerhans cell histiocytosis usually affecting bone, that may progress to multi-organ involvement, with pulmonary involvement as an indicator of poor prognosis. Herein, we present a 48-year-old man with a 2-year history of progressive exertional dyspnoea, dry cough, malaise and exophthalmos. High-resolution computed tomography showed peripheral interstitial thickening with a lymphangitic distribution throughout both lungs, suspected of representing lymphangitic spread of neoplasia. Transbronchial biopsy specimen and bronchoalveolar lavage were non-diagnostic; thus, a surgical lung biopsy was performed which showed features diagnostic of ECD. Subsequent systematic investigations showed widespread bone involvement, cardiac involvement manifested as left heart failure and renal/perirenal disease. Treatment with pulsed corticosteroids and cyclophosphamide elicited neither clinical nor functional response, with death at 6 months. This case highlights the aggressive nature of ECD when there is pulmonary involvement, as well as problems in diagnosis when there is pulmonary presentation and when systemic disease is asymptomatic.
authors.affiliation: Departments of Thoracic Medicine and Radiology, Medical School, University of Crete, Heraklion, Greece Department of Pathology, Royal Brompton Hospital, London, UK.
authors.forename: Charalambos
authors.initials: C
authors.lastname: Protopapadakis
authors.forename: Katerina M
authors.initials: KM
authors.lastname: Antoniou
authors.forename: Andrew G
authors.initials: AG
authors.lastname: Nicholson
authors.forename: Argiro
authors.initials: A
authors.lastname: Voloudaki
authors.forename: Nikolaos
authors.initials: N
authors.lastname: Tzanakis
authors.forename: Athanasios
authors.initials: A
authors.lastname: Karantanas
authors.forename: Nikolaos M
authors.initials: NM
authors.lastname: Siafakas
mesh_terms: D031249:Erdheim-Chester Disease / Q000175:diagnosis*; D017809:Fatal Outcome; D006801:Humans; D008171:Lung Diseases / Q000175:diagnosis*; D008297:Male; D008875:Middle Aged