Homoxygous Familial Hypercholesterolemia is characterized by a presence of several types of cutaneous xanthomas with an abnormal lipid profile. Some of these could be pathognomonic. Although these could be initially i...Homoxygous Familial Hypercholesterolemia is characterized by a presence of several types of cutaneous xanthomas with an abnormal lipid profile. Some of these could be pathognomonic. Although these could be initially interpreted as isolated and localized benign disorders and offered surgical treatment, it has become increasingly clear that they could be a part of a systemic pathology. Here we describe a case of this rare disorder in a 19 years old non-obese young man who presented multiple, intertriginous, tuberous and tendinous xanthomas and had an associated abnormal lipid profile with elevated lowdensity lipoprotein cholesterol levels. A detailed history with clinical assessment in the differential diagnosis and laboratory investigations led to a precise diagnosis.展开更多
文摘Homoxygous Familial Hypercholesterolemia is characterized by a presence of several types of cutaneous xanthomas with an abnormal lipid profile. Some of these could be pathognomonic. Although these could be initially interpreted as isolated and localized benign disorders and offered surgical treatment, it has become increasingly clear that they could be a part of a systemic pathology. Here we describe a case of this rare disorder in a 19 years old non-obese young man who presented multiple, intertriginous, tuberous and tendinous xanthomas and had an associated abnormal lipid profile with elevated lowdensity lipoprotein cholesterol levels. A detailed history with clinical assessment in the differential diagnosis and laboratory investigations led to a precise diagnosis.
