A Case of Xanthoma Disseminatum Accentuating over the Eyelids

ABSTRACT

Xanthoma disseminatum (XD) is a rare, benign non-familial mucocutaneous disorder, which is a subset of non-Langerhans cell histiocytosis. It is characterized by mucocutaneous xanthomas in a disseminated form typically involving the eyelids, trunk, face, and proximal extremities and occurs in flexures and folds such as axillae and the groin. Mucosal involvement of the respiratory or gastrointestinal tracts may lead to hoarseness or intestinal obstruction from a mechanical mass effect. This paper outlines the case of a 47-year-old female with progressive yellow-to-brown confluent nodules and plaques of various sizes on her scalp, face, oral mucosa, neck, shoulder, axillary folds, and perianal area. Xanthomas accentuating over the eyelids and eyelashes led to partial obstruction of her visual field and interfered with blinking. Further, she suffered from xerophthalmia. The presentation of histopathological features including foamy histiocytes, inflammatory cells, and Touton giant cells in conjunction with her clinical findings indicated a diagnosis of XD. Evaluations for extracutaneous involvement including the central nervous system, respiratory tract, gastrointestinal tract, and bone resulted in nonspecific findings. Although she has been treated with surgical excisions, CO2 laser therapy, and oral prednisolone, new lesions are still emerging.