Multiple Xanthoma Tuberosum in a Case of Familial Homozygous Hypercholesterolemia
Keywords:xanthoma, familial, hypercholesterolemia, LDL
A 15-year-old, Indian, female child of a second-degree consanguineous marriage, presented with polymorphic yellowish-brown nodular cutaneous lesions over the dorsal aspect of both elbows, knees (Figure 1A) and buttocks (Figure 1B). These were suggestive of xanthoma tuberosum and were first noted at 4 years old. There were no spots over the eyelids, acanthosis, skin tags or tendon xanthomas. Arcus juvenilis was not noted. A bilateral carotid bruit was appreciated.
Mozas P, Cenarro A, Civeira F, Castillo S, Ros E, Pocovi M. Mutation analysis in 36 unrelated Spanish subjects with familial hypercholesterolemia: Identification of 3 novel mutations in the LDL receptor gene. Hum Mutat. 2000;15(5):483-4. https://pubmed.ncbi.nlm.nih.gov/10790219. https://doi.org/10.1002/(SICI)1098-1004(200005)15:5<483::AID-HUMU19>3.0.CO;2-Q.
Risk of fatal coronary heart disease in familial hypercholesterolemia. Scientific Steering Committee on behalf of the Simon Broome Register Group. BMJ. 1991; 303(6807):893-6. https://pubmed.ncbi.nlm.nih.gov/1933004. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1671226. https://doi.org/10.1136/bmj.303.6807.893.
Müller C. Angina pectoris in hereditary xanthomatotic. Arch Intern Med (Chic). 1939;64(4):675–700. https://doi.org/10.1001/archinte.1939.00190040016002.
Kasper DL, Fauci AS, Hauser S, et al. Harrison’s principles of internal medicine, 19th ed., vol. 2. New York: McGraw-Hill; 2015.
Maliachova O, Stabouli S. Familial hypercholesterolemia in children and adolescents: Diagnosis and treatment. Curr Pharm Des. 2018;24(31):3672-7. https://pubmed.ncbi.nlm.nih.gov/30317987. https://doi.org/10.2174/1381612824666181010145807.
Mach F, Baigent C, Catapano A; for The Task Force for the management of dyslipidaemias of the European Society of Cardiology (ESC) and European Atherosclerosis Society (EAS). 2019 ESC/EAS Guidelines for the management of dyslipidaemias: Lipid modification to reduce cardiovascular risk. European Heart Journal. 2020;41(1); 111 -88. https://doi.org/10.1093/eurheartj/ehz455.
How to Cite
Copyright (c) 2023 Pankaj Singhania, Pritam Biswas, Abhranil Dhar
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
Journal of the ASEAN Federation of Endocrine Societies is licensed under a Creative Commons Attribution-NonCommercial 4.0 International. (full license at this link: http://creativecommons.org/licenses/by-nc/3.0/legalcode).
To obtain permission to translate/reproduce or download articles or use images FOR COMMERCIAL REUSE/BUSINESS PURPOSES from the Journal of the ASEAN Federation of Endocrine Societies, kindly fill in the Permission Request for Use of Copyrighted Material and return as PDF file to email@example.com or firstname.lastname@example.org.
A written agreement shall be emailed to the requester should permission be granted.