Erdheim-Chester disease (ECD) is a rare type of blood cancer characterized by infiltration of the body tissues by pathologic histiocytes, leading to widespread inflammation and damage. Clinical presentations range widely, from asymptomatic infiltration of bone to multiple organ system damage and resultant dysfunction. This report describes a case of a patient with several unusual imaging findings that led to a differential diagnosis of ECD; however, a biopsy of a mediastinal mass suspected to be due to histiocyte infiltration instead revealed primary lung cancer. Ultimately, ECD could not be ruled out, and the patient was referred to dermatology for a superficial facial xanthelasma biopsy, results of which were consistent with ECD. Concurrent ECD and adenocarcinoma is highly unusual; this case demonstrates the importance of a thorough investigation and the consideration that not all findings may be attributable to a single disease process, even when the alternative is very unlikely.
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http://dx.doi.org/10.1177/2324709620918101 | DOI Listing |
Turk J Pediatr
November 2024
Division of Pediatric Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Türkiye.
Background: Griscelli syndrome (GS) is a rare genetic disorder characterized by oculocutaneous albinism and variable immune dysfunction. Among three distinct types of GS, occurring due to different genetic mutations; GS type 1 presents with neurological manifestations, hemophagocytic lymphohistiocytosis (HLH) generally develops in GS type 2, and GS type 3 primarily exhibits oculocutaneous albinism. HLH, a life-threatening condition with excessive immune activation, may occur secondary to various triggers, including infections, and develop in different tissues, as well as in the testis, similar to Erdheim-Chester disease.
View Article and Find Full Text PDFLangerhans cell histiocytosis (LCH), juvenile xanthogranuloma (JXG) family lesions, and Rosai-Dorfman-Destombes disease (RDD) are now classified by the World Health Organization (WHO) under the heading of histiocytic/dendritic cell neoplasms. Each disease may manifest as a focal lesion, as multiple lesions, or as a widespread aggressive systemic disease with visceral organ involvement. Erdheim-Chester disease (ECD) is a rare systemic disease process of adults with limited cases in children.
View Article and Find Full Text PDFHistiocytosis 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.
View Article and Find Full Text PDFDis Mon
January 2025
Department of Pharmaceutical Sciences, Babasaheb Bhimrao Ambedkar University, Vidya Vihar, Raebareli Road, Lucknow-226025, (U.P.), India. Electronic address:
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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