Juvenile xanthogranuloma: A herald to the diagnosis of Erdheim‐Chester disease in an adult with acute leukemia

Abstract

A 21-year-old man with B-cell acute lymphoblastic leukemia developed an eruption of multiple flesh-colored nodules and persistent fevers. A lesional biopsy showed diffuse dermal infiltrates of histiocytes, foam cells, and Touton giant cells consistent with juvenile xanthogranulomatosis. Upon further investigation, the patient's constellation of findings fit criteria for Erdheim-Chester disease.

Review of genodermatoses with characteristic histopathology and potential diagnostic delay

“…Skin lesions were present in about 1/3 of patients in one series . Lesions include xanthelasma‐like yellow plaques on the eyelids, as well as occasionally the temples or forehead, red‐brown papules, and red‐brown plaques on the trunk . Patients may have a history of, or concurrent lesions of, Langerhans cell histiocytosis …”

“…Unlike the langerin (CD207)‐positive histiocytes in Langerhans cell histiocytosis, which are classically CD1a+ and CD68−, the histiocytes in ECD are negative for langerin and CD1a, with positivity for CD68+; they may be arranged in sheets, nodules, or dispersed interstitially within the dermis . Histiocytes can have foamy cytoplasm, sometimes with interspersed Touton giant cells (Figure ); histopathologic features can be similar to juvenile xanthogranuloma, especially in lesions with Touton giant cells …”