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Image Number 472 (Familial hypercholesterolemia)


Diagnosis: Familial hypercholesterolemia

Site: Gluteal cleft

Sex: M

Age: 5

Type: Clinical

Description: Yellow nodules and plaques

Submitted by: Shahbaz Janjua

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Differential Diagnosis

History:   This 5-year-old boy had a progressive cutaneous eruption comprised of yellowish nodules and plaques since birth. He had two siblings with a similar condition who died prematurely at ages of 6 and 17 years.

Familial hypercholesterolemia (FH) is an autosomal dominant disorder of lipid metabolism that causes severe elevations in total cholesterol and low-density lipoprotein cholesterol. Corneal arcus and planar, tendon, and tuberous xanthomas are present early in childhood and sometimes at birth. Recognition of the cutaneous manifestations of FH permits early diagnosis and treatment to prevent the otherwise severe and inevitable cardiovascular complications.

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