Diagnosis typically involves a combination of clinical examination and laboratory tests. During the clinical exam, a pediatrician will assess the appearance and distribution of the lesions. Laboratory tests may include:
- Lipid Panel: To measure levels of cholesterol and triglycerides. - Genetic Testing: To identify possible genetic causes such as familial hypercholesterolemia. - Biopsy: In some cases, a biopsy of the lesion may be performed to confirm the diagnosis.