Disseminated intracranial xanthoma disseminatum: a rare case report and review of literature

Abstract

BackgroundXanthoma disseminatum (XD) is a rare benign histiocytic proliferating disease of non-Langerhans cell origin, which is clinically mainly characterized by cutaneous or mucous lesions. Although XD is acknowledged of one systematic disease, involvement of the central nervous system is quite rare.Case presentationWe presented one 34-year-old Chinese female with disseminated intracranial XD without cutaneous or oral mucosal papules and masses of the other organs. MR imaging displayed multiple heterogeneous masses with intense enhancement in the right frontal lobe, temporal lobe, corpus callosum, left cuneus, suprasellar region, and right cerebellum. Pathological examination showed a neoplastic lesion composed of plentiful epitheloid or spindle cells. The cell had pink cytoplasm of vacuolation and foam with deviated nucleus absent of atypia and mitosis. The histiocytic markers including CD163, CD11c, Mac387 and CD68 were positive, whereas S-100, CD1a, GFAP, CD21, CD23 and so on were negative immunohistochemically.ConclusionsIntracranial XD without systemic involvement was extremely rare, which was supposed to be considered in differential diagnosis with other neoplasms of histiocytic origin or gliomas.

Bilateral frontal intracranial xanthoma associated with type II hyperlipidemia in a 42-year-old woman: illustrative case

“…1,2,4,[7][8][9][10][11][12] Some immunohistochemical markers, such as CD1a, S-100, glial fibrillary acidic protein, CD30, and CD21, could be used to differentiate from other underlying causes, such as Langerhans cell histiocytosis, glioma, follicular dendritic cell sarcoma, and lymphoma. 2,13 However, no facilities exist to perform this examination at our institution.…”

Disfiguring Nodular Cephalic Xanthoma Disseminatum: An Exceptional Variant of a Forgotten Entity

“…Involvement of other organs (i.e. bones, kidneys, lymph nodes, nervous system) is described, although less frequent (2)(3)(4).…”

“…Whereas several other papers reported progression and/or death of patients even after aggressive chemotherapy. Consequently, the best therapeutic approach still needs to be weighed against the patient's clinical severity (4,11).…”

Cervical Myelopathy due to Odontoid Fracture Induced by Spinal Involvement of Xanthoma Disseminatum

“…anthoma disseminatum (XD) is a rare disorder, a subset of non-Langerhans cell histiocytosis, which is characterized by dissemination of mucocutaneous xanthoma in patients without systemic lipid metabolism abnormalities [1][2][3][4][5][6] . It affects the mucous membranes in 30% of cases and the central nervous system presenting as diabetes insipidus in up to 40% 6 .…”