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Year : 2002  |  Volume : 68  |  Issue : 2  |  Page : 105-106

Tuberous xanthomas in type IIA hyperlipoproteinemia

Department of Dermatology, Andhra Medical College, Visakhapatnam, India

Correspondence Address:
Door No. 14 -24-1, Bharathi Hospital, Maharanipeta, Visakhapatnam - 530 002, Andhra Pradesh, India


A 4 - year -old obese girl with multiple yellowish, plaques and nodular lesions showed features of tuberous xanthomato in Type IIa hyperlipoproteinemia.

How to cite this article:
Mohan K K, Kumar K D, Ramachandra B V. Tuberous xanthomas in type IIA hyperlipoproteinemia. Indian J Dermatol Venereol Leprol 2002;68:105-6

How to cite this URL:
Mohan K K, Kumar K D, Ramachandra B V. Tuberous xanthomas in type IIA hyperlipoproteinemia. Indian J Dermatol Venereol Leprol [serial online] 2002 [cited 2021 Jan 21];68:105-6. Available from:

   Introduction Top

Xanthomas are commonly caused by a disturbance of lipoprotein metabolism.[1],[2] 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.[3] 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.

   Case Report Top

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.[4] The lipid profile of her father showed a rise in the LDL cholesterol and triglycerides.

   Discussion Top

The hyperlipoproteinemias which manifest in early childhood are type -1 and type II a.[3] 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[2] 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. 

   References Top

1.Maher - Wiese VL, Marmer EL, Grant - Kels JM. Xanthomas and inherited hyperlipoproteinemias in children and adolescents. Pediatr Dermatol 1990;7:166.  Back to cited text no. 1    
2.Parker F. Xanthomas and hyperlipidemias. J Am Acad Dermatol 1985;13:1.  Back to cited text no. 2    
3.Mallory SB. Infiltrative Diseases. In: Pediatric Dermatology, Edited by Lawrence A. Schanchner, Ronald C, Hansen, Chuchill Livingstone Publishing, New York 1995;859-864.  Back to cited text no. 3    
4.Bulkley BH, Buja M, Ferrans VJ, et al. Tuberous xanthomas in homozygous Type- II hyperlipoproteinemia: A histologic, histochemical and electron microscopical study. Arch Pathol 1975;99:293-300.  Back to cited text no. 4    


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