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Extensive papulonodular xanthoma: a diagnostic clue to homozygous familial hyperlipidaemia
  1. Ritesh Panda1,
  2. Sunil Kumar Rout2 and
  3. Aparna Kanungo2
  1. 1Department of Trauma and Emergency Medicine (Burns & Plastic Surgery), All India Institute of Medical Sciences Bhubaneswar, Bhubaneswar, Orissa, India
  2. 2Department of Burns & Plastic Surgery, AIIMS Bhubaneswar, Bhubaneswar, Orissa, India
  1. Correspondence to Dr Sunil Kumar Rout; drsunilrout{at}rediffmail.com

Abstract

A man in his early 30s, presented with multiple soft tissue swellings over the buttocks, around the knees, ankles and dorsum of both the hands since childhood. His father and paternal uncle had similar lesions, and his father had coronary artery disease. One of his sisters had a history of sudden death due to an unknown cause at 14 years. The patient and his parents had very high serum levels of total cholesterol and low-density lipoprotein. Based on the above findings, a clinical diagnosis of familial hyperlipidaemia type II was made. Larger lesions were excised in stages, and histopathological evaluation revealed the lesions to be eruptive xanthoma. A cardiac assessment revealed no significant abnormality. Lipid-lowering agents and low-dose aspirin were started, and the patient was advised for regular cardiology and endocrine evaluation. This case emphasises its rare presentation and the importance of early diagnosis and management to prevent any untoward future incidence.

  • lipid disorders
  • dermatology
  • plastic and reconstructive surgery

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Footnotes

  • Contributors RP contributed to diagnosis and treatment of the case and prepared the initial manuscript. SKR contributed to the diagnosis and treatment of the case, editing and preparing the final manuscript. AK contributed to diagnosis and treatment of the case as well as collection of all clinical and laboratory data.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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