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This case study highlights a rare genetic condition causing painful breast lesions in a young woman. Early ultrasound (US) and elastography revealed subcutaneous lesions, suggesting a familial predisposition.

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Area of Science:

  • Medical Imaging
  • Genetics
  • Dermatology

Background:

  • A 29-year-old woman presented with noncyclical mastalgia and palpable lesions in bilateral breasts, anterior abdominal wall, and forearm.
  • Family history revealed breast cancer in her mother and grandmother, and similar lesions in a brother.
  • Patient was overweight with generalized anxiety disorder, taking selective serotonin receptor inhibitors.

Observation:

  • Physical examination revealed multiple small, mobile, painful lesions in bilateral breasts, anterior abdominal wall, and forearm.
  • Laboratory investigations, including complete blood count and erythrocyte sedimentation rate, were within normal limits.
  • High-frequency ultrasound (US) with Color Doppler and shear-wave elastography demonstrated similar subcutaneous lesions.

Findings:

  • Ultrasound and elastography confirmed the presence of subcutaneous lesions in the breasts, anterior abdominal wall, and forearm.
  • The clinical presentation and familial history suggested a potential genetic component to the observed lesions.
  • The lesions were described as painful and palpable, indicating a symptomatic condition.

Implications:

  • This case underscores the importance of considering rare genetic conditions in patients with unexplained palpable lesions and a positive family history.
  • Advanced imaging techniques like shear-wave elastography can aid in characterizing these lesions.
  • Further investigation into the specific genetic mutation may be warranted for accurate diagnosis and management.