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PICTORIAL CME
Year : 2012  |  Volume : 2  |  Issue : 1  |  Page : 49-50

Girl with skin lesions over eye lids and ankles


Department of Neurology, Osmania Medical College and Osmania General Hospital, Hyderabad, Andhra Pradesh, India

Date of Web Publication3-Dec-2012

Correspondence Address:
Ranga Lakshmi
16-2-147/4/4 Malakpet, Hyderabad, Andhra Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2249-4855.104019

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How to cite this article:
Radhakrishna H, Lakshmi R. Girl with skin lesions over eye lids and ankles. J Acad Med Sci 2012;2:49-50

How to cite this URL:
Radhakrishna H, Lakshmi R. Girl with skin lesions over eye lids and ankles. J Acad Med Sci [serial online] 2012 [cited 2020 Jan 25];2:49-50. Available from: http://www.e-jams.org/text.asp?2012/2/1/49/104019

A twelve-year old girl presented with vague mid-dorsal pain and peculiar facial lesions over the eye lids for the past 9 months. Examination of the spine was normal. The face showed small elevated yellowish lesions over the eye lids and at the root of the nose [Figure 1] and [Figure 2]. She also had multiple bulbous swelling over both feet on the outer aspect as well as tendo Achilles [Figure 3]. Her serum lipid profile showed total cholesterol 560 mg/dl, triglycerides 125 mg/dl, HDL cholesterol 55% mg, LDL cholesterol 405% mg, and VLDL cholesterol 100% mg. Complete urinalysis was normal and showed no proteinuria. Serum thyroid stimulating hormone levels were normal. There was no family history of high cholesterol levels or any significant cardiovascular events. The pain was diagnosed as fibromyalgia and subsided with treatment.
Figure 1: Xanthelesma over the eye lids and at the root of nose

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Figure 2: Magnified view of xanthelesma

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Figure 3: Tendon xanthomas

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It is a case of Familial Hyperlipoproteinemia Type II a according to Frederickson and Levy classification. It is one of the commonest types of familial hyperlipoproteinemias and is due to LDL receptor gene mutation, [1] leading to increased production and decreased catabolism of LDL cholesterol fraction and is a risk factor for premature atherosclerosis. A skin biopsy and measurement of LDL receptor activity in skin fibroblasts may confirm the pathological process but is not widely available. Xanthomas are associated with a 3 times higher risk of cardiovascular disease in familial hypercholesterolemia patients suggesting that xanthomas and cardiovascular disease may share etiology. [2]

The treatment modalities include a HMG Co A reductase inhibitor coupled with drugs to reduce the absorption. In more severe cases, LDL apheresis therapy can result in regression of tendon xanthomas. In refractory case, liver transplantation can be curative, resulting in better clearance of LDL cholesterol molecules.

The child was started on rosuvastatin and is being followed for therapeutic response.

 
  References Top

1.Ed Dan Longo, Fauci A, Kasper D, Hauser S, Jameson J, Loscalzo J. Lipoproteinclassification and composition Harrison;s Principles of Internal medicine, Ch. 356, 18th ed. New York: Mc Graw-Hill.  Back to cited text no. 1
    
2.Oosterveer DM, Versmissen J, Yazdanpanah M, Hamza TH, Sijbrands EJ. Differences in characteristics and risk of cardioovascular disease in familial hypercholesterolemia patients with and without tendon xanthomas:A systematic review. Atherosclerosis 2009;207:311-7.  Back to cited text no. 2
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

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