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, CO(2) laser therapy, and oral prednisolone, new lesions are still emerging.

Keywords: Blinding; Field of vision; Xanthoma disseminatum; Xerophthalmia.

Fig. 1

Cutaneous features characterized by multiple confluent yellow to red-brown hard papules and nodules on the face (A), oral mucosa (B), neck (C), axillae (D).

Fig. 2

Xanthoma disseminatum progressively accentuating around ocular area (A) and it hindered in closing her eyes (B).

Fig. 3

Histopathologic features characterized by a mixture of histiocytes, inflammatory cells, foam cells (A: H&E, ×200), form cells and Touton giant cells (B: H&E, ×200). Immunohistochemical stainings positive for CD68 (C) and negative for S-100 (D), and CD1a (E) (×200).