An exceptional case of xanthomatous infiltration of the musculoskeletal and integumentary systems

Skeletal Radiol. 2015 Aug;44(8):1181-7. doi: 10.1007/s00256-015-2116-6. Epub 2015 Feb 19.

Abstract

Tendinous and subcutaneous xanthomas are most commonly associated with primary hyperlipidemia. Xanthomatosis caused by cholesterol deposition can be a high risk marker for cardiovascular disease related to premature atherosclerosis; thus, early recognition of this diagnosis may reduce mortality and morbidity. Achilles tendon involvement is most common, followed by the extensor tendons of the hand and elbow. We present an exceptional case of tendinous and tuberous xanthomas, with intraoperative and histologic correlation, in a 34-year-old female manifesting with xanthomatous deposits of nearly all ankle tendons, plantar aponeurosis, extensor tendons of the hands, and various locations within the integumentum. To the authors' knowledge, only four studies to date have focused specifically on imaging findings of multifocal xanthomas. Thus, the radiographic and MR imaging descriptions of xanthomas in this report further add to the existing literature by helping to identify imaging characteristics of this multifocal systemic disease. The diagnosis of this condition should alert the physician to the presence of a dyslipidemia that can be treated with dietary modifications and/or drug therapy.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Diagnosis, Differential
  • Dyslipidemias / complications
  • Dyslipidemias / diagnosis*
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Rare Diseases / diagnosis
  • Skin Diseases / diagnosis*
  • Skin Diseases / etiology
  • Tendinopathy / diagnosis*
  • Tendinopathy / etiology
  • Xanthomatosis / complications
  • Xanthomatosis / diagnosis*