RT Journal Article
SR Electronic
T1 An unusual case of interstitial lung disease in a patient with cardiopulmonary syndrome as the initial presentation of Erdheim-Chester disease
JF BMJ Case Reports
FD BMJ Publishing Group Ltd
SP bcr-2017-220659
DO 10.1136/bcr-2017-220659
VO 2017
A1 Domingo Franco-Palacios
A1 April McDonald
A1 R Neal Aguillard
A1 Allen Berry
YR 2017
UL http://casereports.bmj.com/content/2017/bcr-2017-220659.abstract
AB Erdheim-Chester disease (ECD) is a very rare disorder with only approximately 600 cases reported in the literature. ECD has been recently reclassified as a histiocytic dendritic cell neoplasm. The clinical spectrum ranges from asymptomatic tissue accumulation of histiocytes to invasive tissue infiltration, which can cause fulminant multisystem failure. It typically presents with bone pain and constitutional symptoms. Extraosseous manifestations are not uncommon. ECD-associated interstitial lung disease has been described in 20%-35% of patients. Diagnosis is primarily by tissue biopsy and immunohistochemistry showing xanthogranulomas composed of foamy histiocytes that stain positive for CD68, CD14 and CD163 and negative for CD1á and langerin. We report a case of ECD in a young man with cardiopulmonary involvement who presented with haemoptysis and dyspnoea.