Introduction:
Erdheim-Chester disease (ECD) is a rare multisystemic disease of
undetermined origin, clinically characterized by multi organ
involvement, affecting primarily middle-aged adults (1) preponderantly
males. Histologically ECD is characterized by the presence of
foamy-macrophages in a fibrotic inflammatory stroma. Histiocytes test
positive for CD 68 and CD163 but negative for CD1a. Molecular testing
for BRAF and MAPK-ERK pathway mutations has opened the doors for
targeted therapies.
The clinical spectrum of ECD is wide and includes frequently bone
lesions, cardiovascular manifestations, retroperitoneum and kidney
involvement, endocrine manifestations, central nervous system,
respiratory involvement and dermatologic lesions. Genital organs and
digestif tract involvement are rare (2).
We herein report the case of a patient illustrating the muti-organ
manifestations of ECD with rare manifestations such as breast and liver
lesions.