Xanthoma Disseminatum in an Infant with Skeletal and Marrow Involvement

PURPOSE: Xanthoma disseminatum is a rare non-Langerhans' histiocytosis of older children and adults with characteristic lesions involving the skin, mucous membrane and occasionally internal organs. We describe a case, presenting in infancy, with unique clinical features. PATIENT AND METHODS: The patient presented at 8 months of age with skin lesions subsequently found to have histologic, immunophenotypic, and ultrastructural characteristics of non-Langerhans' histiocytosis. In addition to extensive skin lesions, the patient also has involvement of the buccal mucosa, lips, eyelids, bones, bone marrow, and possibly liver and spleen. RESULTS: Clinical and pathological features of the patient are suggestive of xanthoma disseminatum. Treatment with cytotoxic, immunomodulatory, and lipid-lowering agents has been unsuccessful to date. CONCLUSION: Unique characteristics of this case of xanthoma disseminatum include the patient's young age, lytic bone lesions, and previously undescribed bone marrow involvement.