Erdheim-Chester disease - pulmonary and renal manifestations

Case contributed by Dr Andrea Posteraro


Cough and mild dyspnea. Blood pressure 130/85. eGFR (105) and creatinine (0.9 mg/dL).

Patient Data

Age: 45 years
Gender: Male

CT scan showed pleural thickening with slightest pleural effusion, widened lobular septa, bronchial vascular bundle thickening, multiple patchy ground glass and solid shadows.

Peri-renal involvement extended to renal pelvis and proximal ureters.

Abdominal aorta and vascular peduncles were spared.

Case Discussion

Erdheim-Chester Disease is a rare, xanthogranulomatous, non-Langerhans-cells histiocytosis with frequent systemic involvement. Although the diagnosis is based on characteristic histological and radiological findings, its identification can be challenging because of its heterogeneous presentation. 

This case shows a rare pulmonary manifestation of Erdheim-Chester disease (ECD). The patient complained of chest tightness, shortness of breath. Also, perirenal involvement was present; although blood values of creatinine and eGFR were normal.

Retroperitoneal biopsy-proved diagnosis of ECD and histiocytosis BRAF V600 mutation was reported. First-line treatment with sirolimus and vemurafenib was started. 

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Case information

rID: 55738
Published: 26th Sep 2017
Last edited: 9th Oct 2018
System: Urogenital, Chest
Inclusion in quiz mode: Excluded
Institution: University of Parma

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