Multiple Xanthoma Tuberosum in a Case of Familial Homozygous Hypercholesterolemia

Authors

  • Pankaj Singhania Institute of Post Graduate Medical Education and Research – Seth Sukhlal Karnani Memorial Hospital, West Bengal, India https://orcid.org/0000-0002-9392-3300
  • Pritam Biswas Institute of Post Graduate Medical Education and Research – Seth Sukhlal Karnani Memorial Hospital, West Bengal, India https://orcid.org/0000-0002-1288-2923
  • Abhranil Dhar Institute of Post Graduate Medical Education and Research – Seth Sukhlal Karnani Memorial Hospital, West Bengal, India https://orcid.org/0000-0003-4282-9581

DOI:

https://doi.org/10.15605/jafes.038.01.17

Keywords:

xanthoma, familial, hypercholesterolemia, LDL

Abstract

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.

Downloads

Download data is not yet available.

Author Biographies

Pankaj Singhania, Institute of Post Graduate Medical Education and Research – Seth Sukhlal Karnani Memorial Hospital, West Bengal, India

Post-Doctoral Trainee (PDT), Department of Endocrinology and Metabolism

Pritam Biswas, Institute of Post Graduate Medical Education and Research – Seth Sukhlal Karnani Memorial Hospital, West Bengal, India

Post-Doctoral Trainee (PDT), Department of Endocrinology and Metabolism

Abhranil Dhar, Institute of Post Graduate Medical Education and Research – Seth Sukhlal Karnani Memorial Hospital, West Bengal, India

Post-Doctoral Trainee (PDT), Department of Endocrinology and Metabolism

References

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.

Published

2022-12-07

How to Cite

Singhania, P., Biswas, P., & Dhar, A. (2022). Multiple Xanthoma Tuberosum in a Case of Familial Homozygous Hypercholesterolemia. Journal of the ASEAN Federation of Endocrine Societies, 38(1), 134–135. https://doi.org/10.15605/jafes.038.01.17

Issue

Section

Images in Endocrinology

Similar Articles

You may also start an advanced similarity search for this article.