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Year : 2009  |  Volume : 54  |  Issue : 2  |  Page : 176-179
Normolipemic tuberous xanthomas

Department of Medicine, G.R. Medical College, Gwalior - 474 009, MP, India

Date of Web Publication3-Jul-2009

Correspondence Address:
Ajay Pal Singh
Olyai Hospital Campus, Hospital Road, Gwalior - 474 009, M.P
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0019-5154.53190

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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.

Keywords: Cutaneous, normolipemic, tuberous xanthoma

How to cite this article:
Singh AP, Sikarwar S, Jatav O P, Saify K. Normolipemic tuberous xanthomas. Indian J Dermatol 2009;54:176-9

How to cite this URL:
Singh AP, Sikarwar S, Jatav O P, Saify K. Normolipemic tuberous xanthomas. Indian J Dermatol [serial online] 2009 [cited 2021 Jun 22];54:176-9. Available from: https://www.e-ijd.org/text.asp?2009/54/2/176/53190

   Introduction Top

Xanthomas are tumor-like collections of foamy histiocytes within the dermis. They may be associated with familial or acquired disorders resulting in hyperlipidemia, with lyphoproliferative malignant neoplasms, or with no underlying disorder. [1] Tuberous xanthomas occur as yellow nodules and are frequently associated with hypertriglyceridemia, but they are also seen in patients with hypercholesterolemia (type II). [2]

We present a case of multiple tuberous xanthomas in a subject with normal lipid metabolism and with no associated systemic disorders, which is an uncommon occurrence. This case is being reported because of its rare occurrence. The aim of this report is to emphasize the importance of considering this disease entity in a patient with normal lipid profile.

   Case Report Top

A 50-year-old male presented in outpatient department with history of yellowish nodular lesions on the trunk and limbs for the past two years. The lesions first appeared as small, yellowish nodules, which were well circumscribed on extensor surface of forearms and arms. After two months, nodular lesions appeared on the back of neck, trunk, thighs, and legs. There was no history of diabetes mellitus, hypothyroidism, or any other systemic disease. The patient was a bidi smoker for the past 30 years. There was no history of similar lesions observed in his parents, siblings, or children.

On examination, the patient looked healthy and had no pallor. Cutaneous examination revealed multiple, firm, nontender, mobile, red-yellow nodules, 1-2 cm in size on the dorsal aspects of forearms and arms, medial aspect of thighs, extensor surface of legs, back of neck, face, and lower back [Figure 1],[Figure 2],[Figure 3],[Figure 4],[Figure 5],[Figure 6],[Figure 7],[Figure 8]. Some of the lesions were found on forearms, arms, and back had central crusting. Rest of the physical examination was within normal limit except for skin lesions.

Routine investigations including complete hemogram and urine analysis were normal. Other investigations revealed normal lipid profile, thyroid, liver and kidney function tests, and blood sugar levels. The results of chest X-ray, E.C.G, and ultrasonography of abdomen were normal. Serum protein electrophoresis showed normal pattern. The histopathological evaluation from one of the nodules showed thinned out epidermis with collection of lobules of foamy macrophages separated by fibrous bands [Figure 9] and [Figure 10]. The patient was kept on follow up and repeated lipid profile after one month showed almost similar values. Cryotherapy with nitrous oxide was done for large tuberous xanthomas along with oral antioxidants. Patient is responding well to the treatment. The skin lesions are healing and he is still under follow-up.

   Discussion Top

Xanthomas are tumors or infiltrates of the skin varying from yellow to brown-red colour, which are due to lipid-containing cells in the dermis. Xanthomas may be the symptoms of a general metabolic disease, a generalized histiocytosis, or a local fat phagocytosing storage process. Xanthoma disseminatum and verruciform xanthoma are particular forms of xanthomas that occur in normolipemic patients. [3] Tuberous xanthomas are firm painless, red-yellow nodules. The lesions can coalesce to form multilobated tumors. Tuberous xanthomas usually develop in pressure areas, such as the extensor surfaces of the knees, the elbows, and the buttocks. In our case too, xanthomas are more common in these areas. Tuberous xanthomas are particularly associated with hypercholesterolemia and increased level of LDL. [4] They can be associated with familial dysbetalipoproteinemia and familial hypercholesterolemia type (Frederickson IIa and III hyperlipoproteinemias), and they may be present in some of the secondary hyperlipidemias. However, our patient did not show any type of hyperlipidemia.

Histopathologically, xanthomas are characterized by the presence of vacuolated macrophages in dermis. These macrophages are filled with lipid droplets, which are dissolved and removed from tissue during histologic processing. Tuberous xanthomas can contain prominent fibrosis and occasional cholesterol clefts. Fibrosis is also seen in histopathological examination of a nodule in this patient.

Multiple tuberous xanthomas are characteristically associated with hyperlipidemic states. However, normolipemic xanthomatosis have been reported in the literature, but this entity is uncommon. [3],[5],[6],[7] Diffuse normolipemic xanthomatosis have normal lipid levels, but are often associated with serious hepatic disease or hematological dyscrasias, especially multiple myeloma. [8] Hu, et al. reported unusual normolipemic cutaneous xanthomatosis with IgG gammopathy, hypernephroma, an unusual family cluster of leukemia. [9] Vail et al . reported a case of chronic myelomonocytic leukemia with cutaneous xanthomas. [10]

Thus, normolipemic xanthomatosis has been found to be associated with either a systemic disease or malignancy. Our case showed multiple tuberous xanthomas but without any lipid disorder or associated systemic disease or malignancy. Normolipemic tuberous xanthomas has been reported previously also, but its occurrence is very rare. [5],[6]

This report emphasizes this disease entity in a patient with normal lipid profile and with no associated systemic disorders.

   References Top

1.Murphy GF, Sellheyer K, Mihm MC. The skin. In: Kumar V, Abbas AK, Fausto N, editors. Robbins and cotran pathologic basis of disease, 7 th ed., Philadelphia: Elsevier; 2004. p. 1248.  Back to cited text no. 1    
2.Bolognia JL, Braverman IM. Skin manifestations of internal disease. In: Kasper DL, Braunwald E, Fauci AS, Hauser SL, Longo DL, Jameson JL, editors. Harrison's principles of internal medicine, 16 th ed. New York: McGraw-Hill; 2005. p. 307.  Back to cited text no. 2    
3.Caputo R, Monti M, Berti E, Gasparini G. Normolipemic eruptive cutaneous xanthomatosis. Arch Dermatol 1986;122:1294-7.  Back to cited text no. 3  [PUBMED]  [FULLTEXT]
4.Hata Y, Shigematsu H, Tsushima M, Oikawa T, Yamamoto M, Yamauchi Y, et al . Serum lipid and lipoprotein profiles in patients with xanthomas: a0 correlative study on xanthoma and atherosclerosis (I). Jpn Circ J 1981;45:1236-42.  Back to cited text no. 4  [PUBMED]  
5.Handa R, Gupta K, Wali JP. Normolipemic xanthomatosis. Postgrad Med J 1995;71:555-6.  Back to cited text no. 5  [PUBMED]  [FULLTEXT]
6.Fleischmajer R, Tint GS, Bennett HD. Normolipemic tendon and tuberous xanthomas. J Am Acad Dermatol 1981;5:290-6.  Back to cited text no. 6  [PUBMED]  
7.Singla A. Normolipemic papular xanthoma with xanthelasma. Dermatol Online J 2006;12:19.  Back to cited text no. 7    
8.Rudolph RL. Diffuse "essential" normolipemic xanthomatosis. Int J Dermatol 1975;14:651-6.  Back to cited text no. 8  [PUBMED]  
9.Hu CH, Winkelmann RK. Unusual normolipidemic cutaneous xanthomatosis: a0 comparison of two cases illustrating the differential diagnosis. Acta Derm Venereol 1977;57:421-9.  Back to cited text no. 9  [PUBMED]  
10.Vail JT Jr, Adler KR, Rothenberg J. Cutaneous xanthoma associated with chronic myelomonocytic leukemia. Arch Dermatol 1985;121:1318-20.  Back to cited text no. 10  [PUBMED]  [FULLTEXT]


  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9], [Figure 10]

This article has been cited by
1 A case of familial hypercholesterolaemia Type IIa presenting with tuberous xanthomas
Vikas Pathania,Arpitha Yadav
Medical Journal Armed Forces India. 2014;
[Pubmed] | [DOI]


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