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Two siblings with tuberous xanthomas: case report.

Tejaswini Girish1, Kawari Sowbhagyalaxmi Ramesh2, Sunil Kumar Shetty1

  • 1Department of General Surgery, Kasturba Medical College Mangalore, Manipal Academy of Higher Education, Karnataka, Manipal, 576104, India.

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Summary

Tuberous xanthomas indicate lipoprotein metabolism abnormalities, often familial. Early diagnosis through examination and investigation is crucial for managing hyperlipidaemia in young individuals.

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Area of Science:

  • Dermatology and Lipid Metabolism

Background:

  • Tuberous xanthomas are a type of xanthoma resulting from lipoprotein metabolism abnormalities.
  • These lesions commonly appear as nodular swellings on extensor surfaces like elbows and knees.
  • Uncontrolled hyperlipidaemia, particularly in younger populations, is a significant concern associated with tuberous xanthomas.

Purpose of the Study:

  • To present a rare case of tuberous xanthomas in two young brothers.
  • To highlight associated manifestations of hyperlipidaemia.
  • To emphasize the importance of comprehensive examination and appropriate investigations for diagnosis and management.

Main Methods:

  • Clinical presentation of two affected siblings.
  • Assessment of hyperlipidaemia manifestations.
  • Diagnostic workup including investigations.

Main Results:

  • The case report details two young brothers presenting with tuberous xanthomas.
  • Associated signs of hyperlipidaemia were observed in the patients.
  • Diagnosis and management strategies were discussed based on findings.

Conclusions:

  • Tuberous xanthomas can be indicative of underlying familial lipoprotein metabolism disorders.
  • Prompt and thorough diagnostic evaluation is essential for identifying and managing hyperlipidaemia in affected individuals.
  • Early detection and intervention can improve outcomes for young patients with these conditions.