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