The presence of intertriginous xanthomas is pathognomonic for homozygous familial hypercholesterolemia.
Intertriginous xanthomas are yellowish papules or plaques in the finger web spaces of the hands.
Additional findings seen in homozygous familial hypercholesterolemia:
(1) family history of premature myocardial infarction in close family members (20's, 30's, 40's)
(2) xanthomas at canthi, elbows and/or tendons
Intertriginous xanthomas are not seen with heterozygous familial hypercholesterolemia or other conditions.
