Retinal Manifestations in a Patient with Xanthoma Disseminatum (Non-Langerhans Cell Histiocytosis)

Background

Xanthoma disseminatum (XD) is a rare normolipemic histiocytic disorder of non-Langerhans cell origin. It is a chronic systemic disease with a benign course, characterized by disseminated xanthomatous lesions. It typically involves the skin, mainly the flexor skin folds and eyelids.[1] XD may also manifest in the central nervous system, respiratory system and gastrointestinal tracts [1] [2].

Since this condition was first described in 1938 by Montgomery and Osterberg [3], few cases have been reported in the literature. Furthermore, apart from the eyelids, only sporadic reports of ocular involvement have been described with episcleral and corneal manifestations [4] [5]. As far as we are aware this is the first report of retinal manifestations related to this rare clinical entity.

References

• 1 Zak I T, Altinok D, Neilsen S S et al. Xanthoma disseminatum of the central nervous system and cranium.  Am J Neuroradiol. 2006;  27 919-921
• 2 Alexander A S, Turner R, Uniate L et al. Xanthoma disseminatum: a case report and literature review.  Br J Radiol. 2005;  78 153-157
• 3 Montgomery H, Osterberg A E. Xanthomatosis: correlation of clinical, histopathological and chemical studies of cutaneous xanthoma.  Arch Dermatol Syphilol. 1938;  37 373-402
• 4 Stirling R J, Bradbury J. Corneal involvement in xanthoma disseminatum.  Eye. 1998;  12 317-318
• 5 Wayman L L, Margo C E. Xanthoma disseminatum with bilateral epibulbar involvement.  Am J Ophthalmol. 2005;  139 557-559