Indian Journal of Dermatology
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Year : 2015  |  Volume : 60  |  Issue : 4  |  Page : 420

Homozygous familial hypercholesterolemia associated with symmetric subcutaneous lipomatosis

Department of Dermatology, Andrology and STDs, Menoufiya University, Egypt

Correspondence Address:
Dr. Noha Mohammed Dawoud
Department of Dermatology, Andrology and STDs, Faculty of Medicine, Menoufiya University, Shebin Elkoom - 32817
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0019-5154.160519

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Homozygous familial hypercholesterolemia is an autosomal dominant disorder of lipid metabolism, characterized by reduced clearance of low-density lipoprotein-cholesterol and a high risk of rapid development of cardiovascular diseases. Its incidence is relatively rare and estimated to be one in one million in general populations. Here, we report homozygous familial hypercholesterolemia in two Egyptian young siblings, presented with cutaneous, tendinous xanthomas, and corneal arcus. One of them has symmetric subcutaneous lipomatosis, which has not been reported before in association with familial hypercholesterolemia.

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