Xanthomas are benign pseudotumours, most often related to a disorder of lipoprotein metabolism, which require screening. Early diagnosis determines the prognosis and enables the prevention, detection and treatment of premature cardiovascular complications.
An 8-year-old female child with a history of first degree family consanguinity presented with yellowish-brown, painless, papular lesions on the elbows (Figure 1), knees (Figure 2) and hands (Figure 3) that were progressively increasing in size for about 5 years. A skin biopsy was performed showing infiltration by xanthomatous foamy histiocytic cells and a few multinucleated "Touton" type cells confirming the diagnosis of xanthoma. The biological assessment revealed very high levels of: total cholesterol (9.87 g/l), LDL cholesterol (8.76 g/l) and Apolipoprotein B (6.66 g/l). Apolipoprotein A1 levels were low (0.62 g/l). A work-up including an electrocardiogram, cardiac ultrasound and glycated haemoglobin was performed and was unremarkable. Based on the clinical and biological data, the diagnosis of familial hypercholesterolemia was made. Medical treatment as well as hygienic and dietary measures were proposed to this child with close monitoring.
Xanthomas are the main skin manifestation of dyslipidaemia. Morbidity and mortality are related to atherosclerosis. Early diagnosis determines the prognosis.
All authors' contributed equally.
Written consent has been obtained from the patient.
No conflict of interest.
Figure 1: Papular lesions of yellowish brown color on the elbow.
Figure 2: Xanthomas on both knees.
Figure 3: Xanthoma on the middle finger of the right hand.