Non-langerhans cell histiocytosis involving the spleen - Erdheim-Chester disease: a case report

Erdheim-Chester Disease (ECD) is a rare form of non-Langerhans histiocytosis characterized by the proliferation of CD68+, CD1a-, and CD163+ histiocytes, with potential multisystem involvement. We report the case of a 31-year-old male presenting with refractory abdominal pain and splenomegaly. Imaging studies revealed nodular splenic lesions, and histopathological analysis following laparoscopic splenectomy confirmed a diagnosis consistent with ECD. Immunohistochemistry demonstrated CD68+, CD163+, S-100+, and factor XIIIa+ histiocytes, with no granulomas or atypical cells. Notably, the patient exhibited isolated splenic involvement, a rare manifestation with only one similar case documented in the literature. The clinical evolution over six months was favorable, with no symptoms or laboratory abnormalities. This case underscores the diagnostic challenges posed by atypical presentations of ECD, emphasizing the role of histopathology and immunohistochemistry in achieving an accurate diagnosis. Further, it highlights the importance of individualized management strategies, including clinical and radiological follow-up, in the absence of consensus treatment guidelines for asymptomatic cases.