Intertriginous xanthoma as a pathognomonic cutaneous sign of homozygous familial hypercholesterolemia

Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder characterized by markedly elevated low-density lipoprotein cholesterol levels leading to premature and accelerated atherosclerotic cardiovascular disease. Cutaneous xanthomas are one of the most important physical signs, that serves as a clinical clue to the diagnosis. Intertriginous xanthomas are considered pathognomonic for HoFH and are rarely seen in heterozygous cases. We present an image of intertriginous xanthomas in a patient with HoFH, highlighting their diagnostic significance. Recognition of this characteristic skin manifestation is crucial, as early identification and aggressive management can reduce morbidity and mortality in affected patients.