Erdheim-Chester Disease: A Case Report Exploring Multisystemic Involvement

Area of Science:

• Oncology
• Pathology
• Radiology

Background:

• Erdheim-Chester disease (ECD) is a rare, multisystemic, non-Langerhans cell histiocytic neoplasm.
• It predominantly affects middle-aged males and often presents with nonspecific symptoms, delaying diagnosis.

Observation:

• A case of an 85-year-old male with extensive multisystemic ECD is presented.
• Manifestations included retroperitoneal, skeletal, vascular, cardiac, orbital, and central nervous system (CNS) involvement.
• Characteristic imaging findings included bilateral osteosclerosis, perirenal infiltration (hairy kidney sign), and dural-based intracranial masses.

Findings:

• Histopathological analysis confirmed ECD, identifying CD68+ histiocytes.
• The BRAFV600E mutation was detected, a key molecular marker for ECD.
• The patient's management involved initial Internal Medicine care followed by Hemato-Oncology referral.

Implications:

• This case underscores the importance of a high index of suspicion for diagnosing rare disorders like ECD.
• A multidisciplinary approach integrating clinical, radiological, and histopathological data is essential for effective patient management.
• Timely diagnosis and tailored treatment strategies can improve outcomes for patients with Erdheim-Chester disease.