Inborn Errors of Metabolism

Paller, Amy S.; Mancini, Anthony J.

doi:10.1016/b978-0-323-24475-6.00024-8

Hurwitz Clinical Pediatric Dermatology 2016

DOI: 10.1016/b978-0-323-24475-6.00024-8

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Inborn Errors of Metabolism

Amy S. Paller

Anthony J. Mancini

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2023

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A Case Report of Xanthoma in a Child: A Sign of Systemic Disease

Katakam,

Sunki,

Netha

et al. 2023

Indian Journal of Paediatric Dermatology

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Xanthomas are localized lipid deposits within an organ system. They are often an important sign of systemic disease. An 11-year-old boy came with complaints of multiple asymptomatic raised lesions over elbows, hands, and knees for 1 year. Lipid profile showed increased levels (total serum cholesterol of 622.2 mg%). Biopsy was suggestive of tuberous xanthoma. His parent’s cholesterol levels were also elevated. Familial hypercholesterolemia (FH) is a common genetic disease in which high low-density lipoprotein cholesterol levels are seen from the birth, and patients are at high risk for cardiovascular disease, cerebrovascular accidents, metabolic syndrome, and premature coronary death. Early detection of FH and early treatment is imperative to reduce morbidity and mortality.

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A Case Report of Xanthoma in a Child: A Sign of Systemic Disease

Katakam,

Sunki,

Netha

et al. 2023

Indian Journal of Paediatric Dermatology

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show abstract

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Inborn Errors of Metabolism

Cited by 1 publication

References 138 publications

A Case Report of Xanthoma in a Child: A Sign of Systemic Disease

A Case Report of Xanthoma in a Child: A Sign of Systemic Disease

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