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THROUGH THE LENS
Year : 2014  |  Volume : 5  |  Issue : 5  |  Page : 59-60  

Tendinous xanthoma with familial hypercholesterolemia


Department of Dermatology, NRS Medical College and Hospital, Kolkata, West Bengal, India

Date of Web Publication13-Nov-2014

Correspondence Address:
Dr. Alok Kumar Roy
138, A J C Bose Road, Entally, Kolkata - 700 014, West Bengal
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2229-5178.144546

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How to cite this article:
Roy AK, Das S, Chowdhury J, Bhanja D. Tendinous xanthoma with familial hypercholesterolemia. Indian Dermatol Online J 2014;5, Suppl S1:59-60

How to cite this URL:
Roy AK, Das S, Chowdhury J, Bhanja D. Tendinous xanthoma with familial hypercholesterolemia. Indian Dermatol Online J [serial online] 2014 [cited 2020 Nov 24];5, Suppl S1:59-60. Available from: https://www.idoj.in/text.asp?2014/5/5/59/144546

A 10-year-old non-obese boy presented with a painful nodular eruptions over the back of ankles for the last 5 years. On examination smooth, skin colored painful nodules were noted over the lower part of each tendo-achilles [Figure 1] and left elbow [Figure 2]. The skin overlying the nodules was freely movable. Arcus juvenilis was present. His parents and two siblings did not show any such findings. A diagnosis of tendinous xanthoma was considered and the patient was subjected to investigations. The lipid profile and the lipoprotein electrophoresis revealed elevated levels of low-density lipoprotein (LDL) cholesterol (453 mg/dl) and total cholesterol (600 mg/dl). Blood sugar, liver function tests, thyroid profile, chest radiograph, electrocardiogram, glucose tolerance test and ultrasonography of the abdomen were normal. There was no evidence of any coronary artery disease. Biopsy from the nodule revealed infiltration of the dermis with admixture of foam cells, histiocytes and lymphocytes [Figure 3]. The lipid profile of the parents showed a rise in the LDL cholesterol. A final diagnosis of familial hypercholesterolemia with tendinous xanthoma was made.
Figure 1: Nodules over tendo-achillis

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Figure 2: Nodules over elbow

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Figure 3: Histopathology from lesion showing foam cells, histiocytes and lymphocytes (H and E, x400)

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   Discussion Top


Xanthomas are commonly caused by a disturbance of lipoprotein metabolism. [1] Tendon xanthomas are cholesterol deposits in tendons. They appear as slowly enlarging papules or subcutaneous nodules attached to tendons, ligaments, fascia and periosteum and commonly affect the tendons of the dorsal surface of the hands and the achilles tendon. Their presence is a clinical sign of familial hypercholesterolemia, an autosomal dominant inherited disorder characterized by high LDL cholesterol levels and premature cardiovascular disease. [2] Triglycerides are generally normal and high-density lipoprotein cholesterol either normal or reduced. [3] Xanthomas are tumor-like collections of foamy histiocytes within the dermis. Histopathologically, xanthomas are characterized by the presence of vacuolated macrophages in dermis. These macrophages are filled with lipid droplets that are dissolved and removed during tissue processing.

Dietary modification and treatment with the statin group of drugs is recommended. Gemfibrozil is effective in patients with Type II (both a and b) and IV hyperlipidemia. [4]

This case highlights the importance of the dermatologist in diagnosing hypercholesterolemia, as children may first present to them with xanthomas. Early diagnosis and treatment may help in preventing the development of early coronary artery disease.

 
   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.
Hata Y, Shigematsu H, Tsushima M, Oikawa T, Yamamoto M, Yamauchi Y, et al. Serum lipid and lipoprotein profiles in patients with xanthomas: A correlative study on xanthoma and atherosclerosis (I). Jpn Circ J 1981;45:1236-42.  Back to cited text no. 2
[PUBMED]    
3.
Lucile E. White.Xanthomatoses and lipoprotein disorders.In: Wolff K,Goldsmith LA, Katz SI, Gilchrest B, Paller AS, Leffell DJ, editors. Fitzpatrick's dermatology in general medicine. 7th Edition New York: McGraw-Hill; 2008, p.1276-77.  Back to cited text no. 3
    
4.
Lavie CJ, Gau GT, Squires RW, Kottke B, Management of lipids in primary and secondary prevention of cardiovascular diseases. Mayo Clin Proc 1988;63:605-21.  Back to cited text no. 4
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]


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Atherosclerosis. 2016; 255: 31
[Pubmed] | [DOI]



 

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