Erdheim Chester Disease: description of 2 illustrative cases involving the lung

Abstract

Erdheim Chester disease represents a clonal systemic proliferation of histiocytes. Bone is the most common site of involvement, although virtually any organ, including lungs, can be affected. The diagnosis of Erdheim Chester disease can be difficult due to its rarity and protean presentation. The correlation between clinical, radiological and histological findings is mandatory for the identification of the disease. Foamy histiocytes, lacking Langerhans cells markers, represent the typical histological findings, although their absence does not rule out Erdheim Chester disease. Identification of BRAF mutation can be helpful in making the diagnosis and allows for the development and application of targeted therapies in this setting.

Herein we describe 2 cases presenting with lung involvement and vertebral lesions, lacking the more typical long bone involvement. One case histologically mimicked a Rosai Dorfman disease. However both cases harbored the pathognomonic BRAFV600E mutation.

This article is protected by copyright. All rights reserved.

http://ift.tt/2FmkiOm