Localized Erdheim-Chester disease involving the thyroid gland—a case report

Abstract Background Erdheim-Chester disease (ECD) is a rare multisystemic histiocytic disorder of unknown etiology. Isolated neck involvement has not been reported in literature. Case presentation An elderly male presented to our outpatient department with swelling 1-month duration. Contrast-enhanced CT scan the showed mass involving left thyroid/perithyroidal tissue encirclement common carotid artery. Tru-Cut biopsy immunohistochemistry CD68+, CD1a- infiltrates Touton giant cells compatible ECD. BRAF V600E mutation came out be positive. PET-CT did reveal any other body organs. After counseling for further treatment options, patient chose follow up without active treatment. The progressed at follow-up 1 year. Conclusion We present case ECD thyroid gland isolation. Absence organ should deter treating physician from considering possibility Immunohistochemistry and testing are important diagnostic as well potential therapeutic point view.