A Rare Presentation of Erdheim-Chester Disease Overlaped with Langerhans Histiocytosis

Abstract

Erdheim-Chester Disease (ECD) is a rare condition and has various differential diagnoses with other forms of histiocytosis, classified as one of non-Langerhans histiocytosis. The diagnosis of this condition remains challenging because its presentation includes non-specific systemic manifestations that can affect different organs caused by deposition of lipids and fibrosis. Most common include bone pain followed by progressive weakness and different lung manifestations. This case is about a rare presentation of ECD with Langerhans Histiocytosis as overlap syndrome, with findings of both diseases in a middle aged woman that presented dyspnea as the first symptom. The patient was treated initially as heart failure and remained without any improvement, being admitted to investigate. After a stricted follow-up, bone and lung involvement were noticed and a skin biopsy unveiled xanthomatized macrophages accompanied by Touton giant cells. This condition remains an important clinical entity and should provide new insights for clinicians dealing with respiratory diseases.