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.

Xanthoma Disseminatum in an Infant with Skeletal and Marrow Involvement Journal Articles