Xanthoma disseminatum with marked mucocutaneous involvement

History and clinical findings: When aged 23 years, a now 36-year-old man wa s first diagnosed as having xanthomas on the upper arms and shoulders. Xant homas then progessed, affecting both the skin and the laryngo-pharyngeal mu cosa. They were so marked that several laser-surgival interventions for the ir removal in the phayngo-laryngeal tract were necessary to ensure unimpair ed breathing. There were also extensive confluent symmetrical cutaneous xan thomas over the upper and lower arms, the face, neck and trunk. Xanthomas a nd scars in the pharynx and larynx necessitated marked nasal breathing. Investigations: There was no laboratory evidence of abnormal lipid metaboli sm. The concentrations of cholesterol, triglycerides, lipoprotein (a), apol ipoprotein A-1, apolipoprotein B, apolipoprotein E phenotype and steroles w ere all normal. The biochemical composition of LDL, VLDL and HDL particle w as also unremarkable. Histological examination of resected xanthomas reveal ed dense infiltrations of the interstitial spaces by foam-cell histiocytes with multiple lipid vacuoles, typical of xanthoma disseminatum. Treatment and course: Neither probucol nor cholesterol synthesis enzyme inh ibitors nor glucocorticoid medication influenced the xanthomas. The only ef fective treatment was removal of the most unsightly or obstructing lesions. But the sars left removal in the mucocutaneous regions caused obstruction in the laryngopharyngeal tract. Conclusion: The cause of xanthoma disseminatum remains unknown. Skeletal mu scle can also be extensively infiltrated. This case shows similarities to E rdheim-Chester disease, another are xanthomatous condition.