Familial hypercholesterolemia with multiple cutaneous xanthomas
نویسندگان
چکیده
منابع مشابه
Cutaneous Xanthomas in a Young Child: Familial Hypercholesterolemia
A 6‐year‐old, non‐obese girl presented to the paediatrics outpatient department with a history of multiple, yellowish plaques, papules, and nodules over the body for past 1 year with a gradual increase in size. These lesions involved the bilateral elbow, knee, knuckle, lateral malleolus, gluteal region, and left upper eyelid and were associated with itching [Figure 1a‐d]. The nodules over the k...
متن کاملFamilial hypercholesterolemia: a case report
Abstract Familial hypercholesterolemia (FH) is a hereditary dislipidemia. Patients present with extremely high level of low-density lipoprotein cholesterol (LDL-C), which is due to mutation in the gene of LDL receptor. Homozygous patients (HoFH) whose incidence is 1 in 1.000.000 are at high risk of premature aortic valve stenosis, and coronary artery atherosclerosis. In homozygous individual...
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Background: Familial hypercholesterolemia (FH) is a frequent autosomal dominant disorder of lipoprotein metabolism. This disorder is generally caused by mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B 100 (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. In the present study, we aimed at identifying the common LDLR and APOB gene mutations in an Iran...
متن کاملA Case of Type Iia Homozygous Familial Hypercholestrolemia with Cutaneous Xanthomas
Familial Hypercholestrolemia (FH) is characterized by presence of various types of cutaneous xanthomas with a deranged lipid profile. An 8 year old non-obese girl presented with multiple planes, tuberous and tendinous xanthomas and had associated abnormal lipid profile with elevated LDL cholesterol levels.
متن کاملFamilial hypercholesterolemia: A case report
Familial hypercholesterolemia (FH) is a hereditary dislipidemia. Patients present with extremely high level of low-density lipoprotein cholesterol (LDL-C), which is due to mutation in the gene of LDL receptor. Homozygous patients (HoFH) whose incidence is 1 in 1.000.000 are at high risk of premature aortic valve stenosis, and coronary artery atherosclerosis. In homozygous individuals cardiov...
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ژورنال
عنوان ژورنال: Indian Journal of Dermatology
سال: 2006
ISSN: 0019-5154
DOI: 10.4103/0019-5154.27989