Familial Type Ii A Hyperlipoproteinemia Presenting With Tuberous Xanthomas

Research Article
Garima Singh., Arvind Krishna., Divya Arora and Naina Jain
DOI: 
http://dx.doi.org/10.24327/ijrsr.2017.0812.1318
Subject: 
science
KeyWords: 
Tuberous xanthoma, Hyperlipedemia
Abstract: 

Xanthomas are localized lipid deposits within organs that may manifest as papules, plaques or nodules in the skin. Xanthomas indicate a more severe form of hyperlipidemia when observed during childhood or adolescence. We report a case of a 3 year old boy who presented to our outpatient department with multiple asymptomatic raised lesions gradually developing since the age of 1 year. Cutaneous examination revealed multiple skin coloured to yellowish smooth surfaced papules, nodules and plaques of variable sizes present bilaterally symmetrically over dorsum of hands and feet, tendo achillis, elbows, knees, posterior aspect of upper thighs and buttocks. Lipid profile revealed total serum cholesterol of 886 mg/dl, triglycerides 156.90 mg/dl, low density lipoproteins (LDL) of 822.62 mg/dl, high density lipoproteins of 32 mg/dl, VLDL of 31.38 mg/dl. Punch biopsy showed features suggestive of xanthoma. The diagnosis was thus established as a case of tuberous xanthomatosis with Type IIa hyperlipidemia.