Erdheim-Chester disease in a child presenting with multiple jaw lesions

HITOSHI NAGATSUKA; PHUU P. HAN; YASUO SHINNO; RYO TAMAMURA; SILVIA S. BORKOSKY; KOUZI TAGUCHI; NORIYUKI NAGAI

Tokio

Congreso; The 94th Annual Meeting of the Japanese Society of Pathology; 2005

The Japanese Society of Pathology

Erdheim-Chester disease is a rare histiocytic disease entity related to juvenile xanthogranuloma. It is a systemic condition, usually occurs in adults, characterized by infiltration of foamy histiocytes within the bone and soft tissues. We report a case of 13 year old female patient who first presented with multiple osteolytic lesions of the jaws followed by bilateral symmetrical bone lesions affecting the lower extremities, as well as brain and abdominal involvement. Histopathological examination of the lesion revealed that the lesions were composed of spindle-shaped cells arranged in short fascicles forming whorl pattern, extensive xanthogranulomatous areas with Touton type giant cells. Immunohistochemical study showed that the lesional cells were strongly and diffusely positive for CD68, but CD1a immunoreaction was absent. This is the first case to report Erdheim-Chester disease in a child with jaw bone lesions occurring as initial presenting symptoms.