Normolipemic tuberous xanthomas

Abstract

Xanthomas are often a manifestation of underlying lipid abnormalities. A 50-year-old male presented to our hospital with the lesions of multiple tuberous xanthomas all over the body. Routine investigations and systemic examination were normal. Lipid profile was within normal range and serum protein electrophoresis showed normal pattern. Histopathology from a nodular lesion showed collection of foamy macrophages in the dermis. We present a case of normolipemic tuberous xanthomas, which is an uncommon occurrence.

A case of familial hypercholesterolaemia Type IIa presenting with tuberous xanthomas

“…2 Histopathologically, they are characterized by discrete collections of lipid laden macrophages in the dermis and can show prominent fibrosis and cholesterol clefts. 4 A similar picture was seen in histopathological examination of a representative lesion from our patient.…”

“…3 Particular forms like xanthoma disseminatum and verruciform xanthomas are known to occur in normolipaemic individuals. 4 Tuberous xanthomas are commonly found over the extensor aspect of elbows and knees. Although, rarely causing functional impairment, they can evolve into large exophytic lesions which maybe itchy and predisposed to trauma.…”

Firm skin-colored nodules on the scalp

“…[ 2 ] Tuberous xanthomas are commonly associated with type III (mixed) Frederickson hyperlipoproteinemia,[ 2 ] and also with type IIa, type IIb and other secondary hyperlipoproteinemias (e.g., biliary cirrhosis, etc.). Rarely, it may occur in normolipemic patients;[ 6 7 8 ] however, there may be associated underlying systemic disorders or malignancy. [ 6 ] Association with pityriasis rubra pilaris has also been reported.…”

Multiple Tuberous Xanthomas: A Diagnostic Dilemma on Cytology

“…[5,6] They usually present over pressure areas such as extensor aspect of elbows, knees and buttocks. [3,7] A previous study has shown that the most frequent site for xanthomas is the Achilles' tendon. [8] Xanthomas consist of cholesterol, cholesterol esters, triglycerides, phospholipids and numerous lipid-laden foamy macrophages.…”

“…Xanthomas may be a part of general metabolic disease. [3] Tuberous xanthomas present as discrete, occasionally multilobated painless nodules or large plaque like lesions of the subcutis. Xanthomas may be divided into several categories: Tendinous xanthoma, xanthoma tuberosum, eruptive xanthoma, xanthoma planum, and palmar xanthoma.…”