Xanthomatous Lesions in Craniofacial Anatomy

Xanthomatous lesions of the craniofacial skeleton comprise a rare group of benign proliferations characterised by accumulations of lipid-laden, foamy histiocytes within bone or adjacent soft tissues. These lesions may arise in association with systemic lipid disorders or as primary, non-metabolic entities. Clinically, patients often present with incidental radiolucencies on routine imaging or with painless swelling, cortical expansion and, occasionally, discomfort or neural compression. Radiographically, xanthomatous lesions may appear as well-defined unilocular or multilocular radiolucencies, sometimes with mixed radiopaque foci. Definitive diagnosis rests on histopathological examination, which reveals sheets of foamy macrophages, occasional multinucleated giant cells and a background fibrous stroma. Immunohistochemical profiling—most notably positivity for the macrophage marker CD68 and negativity for S100 and CD1a—facilitates distinction from other histiocytic disorders such as Langerhans cell histiocytosis or Rosai–Dorfman disease. Differential diagnoses also include benign fibrous histiocytoma, non-ossifying fibroma and odontogenic cysts. Management typically involves conservative surgical curettage or resection, with most lesions demonstrating no recurrence on follow-up. Understanding the pathogenesis and varied presentations of craniofacial xanthomas has practical implications for accurate diagnosis, avoidance of overtreatment and the identification of underlying lipid metabolism disorders.

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Xanthomatous Lesions in Craniofacial Anatomy publication trend

The graph below shows the total number of articles in xanthomatous lesions in craniofacial anatomy across all publications each year (not limited to Nature Index journals).

Technical terms

Xanthoma: A benign lesion characterised by accumulation of lipid-laden foamy histiocytes within bone or soft tissue, sometimes associated with systemic hyperlipidaemia.

Histiocyte: A macrophage-derived cell found in connective tissue that participates in phagocytosis and can accumulate lipids to form foamy cytoplasm.

Immunohistochemistry: A laboratory technique using antigen–antibody reactions to detect specific cellular markers (e.g., CD68, S100) in tissue sections, aiding in differential diagnosis.

References

1. Xanthoma of the Jaw Bones: Cases Series and Review of Literature. Head and Neck Pathology (2024).
2. Solitary primary intraosseous xanthoma of the mandible in a 15-year-old boy: a case report. Journal of Medical Case Reports (2024).
3. Primary Mandibular Condyle Xanthoma: Case Report and Literature Review. Reports — Medical Cases Images and Videos (2023).