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Histiocytosis are caused by pathogenic myeloid cells, and can be classified as Langerhans cell histiocytosis (LCH) and non-LCH. Erdheim-Chester disease (ECD) is a non-LCH, characterized by multi-organ involvement, typical imaging findings, and confirmatory histological studies. A case with multi-organ involvement and histological confirmation is presented.

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Article Synopsis
  • Langerhans cell histiocytosis (LCH) is a rare disorder marked by the abnormal buildup of dendritic histiocytes in tissues, often presenting as single- or multi-system diseases, particularly affecting adults.
  • In a reported case, a 46-year-old woman experienced back pain, motor and sensory deficits, and was diagnosed with a compression fracture in the spine, alongside signs of central nervous system and salivary gland involvement.
  • The patient underwent surgical intervention that included decompression and a biopsy, confirming the presence of LCH, highlighting the complexity and rarity of adult-onset LCH with extensive system involvement.
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Erdheim-Chester disease (ECD) is an extremely rare non-Langerhans cell disorder that is believed to include both inflammatory and neoplastic characteristics. It is caused due to genetic mutations in proto-oncogenes like BRAF and MEK, while immunological pathways have an essential role in the onset and progression of the disease. Despite its rarity, ECD poses significant diagnostic and therapeutic challenges due to its heterogeneous clinical presentation and limited understanding of its underlying pathophysiology.

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