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Interdigital, tendon, and gluteal xanthomas in familial hypercholesterolemia
Corresponding author: Dr. Rohit Kothari, Department of Dermatology, 12 Air Force Hospital, Gorakhpur, India. rohitkothari3422@gmail.com
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Received: ,
Accepted: ,
How to cite this article: Kothari R, Khare S. Interdigital, tendon, and gluteal xanthomas in familial hypercholesterolemia. Indian J Dermatol Venereol Leprol. doi: 10.25259/IJDVL_521_2024
A 21-year-old male presented with multiple asymptomatic yellowish-brown papules, plaques, and nodules over web spaces, proximal interphalangeal joints, and metacarpophalangeal joints of both hands [Figure 1a], elbows [Figure 1b], and gluteal region [Figure 1c] since the age of six years. His father had died of myocardial infarction at 39 years and his paternal uncle aged 34 years was on treatment for coronary artery disease. Investigations revealed elevated total cholesterol (723 mg/dl) and low-density lipoprotein (LDL) cholesterol (602 mg/dl). Heart echocardiography was normal. Genetic studies showed a missense mutation in the LDL-receptor gene (c.2054C > T). He was diagnosed as familial hypercholesterolemia and started on pravastatin and counselled regarding lifestyle modifications. Follow-up at the sixth month revealed persistence of xanthomas and normal cholesterol levels.
- Interdigital and tendon xanthomas over both the hands.
- Tendon xanthomas over the elbows.
- Gluteal xanthomas.
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Conflicts of interest
There are no conflicts of interest.
Use of artificial intelligence (AI)-assisted technology for manuscript preparation
The authors confirm that there was no use of AI-assisted technology for assisting in the writing or editing of the manuscript and no images were manipulated using AI.
