A 15-year-old male child born to a consanguineous parents presented with asymptomatic yellowish lesions in the hands, elbows and gluteal region since 5 years of his age. He also had angina and class II dyspnea (NYHA). His sister also had similar lesions. Physical examination revealed multiple flat to slightly raised yellow plaques with corrugated surface in the web spaces and similar nodular lesions over the knuckles (Fig. 1).

The lipid profile was abnormal: serum cholesterol was 497 mg/dl (normal 140-250 mg) and low density lipoprotein was 453 mg/dl (normal 50-190 mg/dl). These values were suggestive of type II hypercholesterolemia (familial homozygous). Echocardiography showed supravalvular aortic stenosis with atherosclerosis of aorta. Skin biopsy (finger web space) for histopathological examination confirmed the diagnosis of cutaneous xanthoma. Xanthomas are localized infiltrates of lipid containing foamy macrophages. They are important clues to the underlying systemic disturbance in lipoprotein metabolism.

In general, four clinical types of xanthomas exist; tendinous, planar, tuberous and eruptive. Although a specific diagnosis cannot be made solely on the basis of clinicl signs, certain types of xanthomas are more characteristic of specific types of hyperlipidemias. As in this case presence of interdigital planar xanthomas are almost certainly diagnostic of familial type II hypercholesterolemia.

G. Sethuraman,
Devinder Mohan Thappa,
K. Karthikeyan,
Department of Dermatology and STD,
Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER),
Pondicherry 605 006, India.