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Tuberous xanthomas in type IIA hyperlipoproteinemia
B V Ramachandra
Door No. 14 -24-1, Bharathi Hospital, Maharanipeta, Visakhapatnam - 530 002, Andhra Pradesh
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Mohan K K, Kumar K D, Ramachandra B V. Tuberous xanthomas in type IIA hyperlipoproteinemia. Indian J Dermatol Venereol Leprol 2002;68:105-106
AbstractA 4 - year -old obese girl with multiple yellowish, plaques and nodular lesions showed features of tuberous xanthomato in Type IIa hyperlipoproteinemia.
Xanthomas are commonly caused by a disturbance of lipoprotein metabolism., Tuberous xanthomas present as yellow or reddish nodules located mainly on the extensor surface of the extremities and buttocks. They may be confused with eruptive xanthomas. They indicate a systemic alteration of cholesterol and/or triglyceride metabolism. When they do occur in children and adolescents, a more severe form of hyperlipidemia should be suspected. Prompt diagnosis and treatment may help to prevent side effects such as early coronary artery disease and pancreatitis. Recently Type II a hyperlipoproteinemia was diagnosed in a 4-year-old obese girl who presented with tuberous xanthoma. The presentation was atypical and henceforth being reported.
A 4-year-old-obese girl presented with multiple waxy nodules over the skin for the past 2 years. The initial lesions started on the trunk and on the bony prominences and in the skin folds and were persistent, slowly progressive and asymptomatic. Her parents were asymptomatic. The case presented with multiple yellowish plaques and nodular lesions distributed bilaterally and symmetrically over the front and back of the trunk which extended in to the skin folds like bands. Skin was folded on the thighs, wrist, natal cleft and at the interdigital areas which showed similar type of lesions. There was no involvement of palmar creases, arcus juvenalis, lymphadenopathy or organomegaly. No clinical evidence of systemic involvement was observed. A diagnosis of xanthomatosis was considered, and the patient was subjected for investigations. The lipid profile [Figure - 1] and the lipoprotein electrophoresis showed a rise in the LDL cholesterol. Blood sugar, liver function tests, thyroid profile, X - ray chest, ECG. GTT and ultra sound scan abdomen were normal. Biopsy from the nodule revealed infiltration of the dermis with admixture of foam cells, histiocytes and lymphocytes. The lipid profile of her father showed a rise in the LDL cholesterol and triglycerides.
The hyperlipoproteinemias which manifest in early childhood are type -1 and type II a. Type I is autosomal recessive and rarest. Familial hypercholesterolemia is a common autosomal dominant disorder affecting approximately one in 500 of general population.The primary defect is due to a reduction in L D L catabolism because of an abnormality in the L D L receptors. Heterozygotes express half the number of LDL receptors and homozygotes have between o and 25%. Homozygotes for familial hypercholesterolemia have markedly elevated cholesterol and LDL at birth. In early years a unique yellowish xanthoma may develop in the interdigital webs of the hands and in the cleft between the buttocks and tuberous xanthomas on the elbows, knees and buttocks. These xanthomas do not appear in the heterozygous adult with familial hypercholesterolemia. The case was presented for its rarity in its clinical presentation. The clinical importance in the present homozygous patient was to foresee a very early development of severe coronary artery disease, and myocardial infarction which can occur in the first and second decades of life.
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