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A 60-year-old female presented with angiofibromas on her face and oral mucosa along with periungual angiofibromas (Koenen’s tumors) on her fingers bilaterally. She did not have hypomelanotic macules, fibrous cephalic plaques, or Shagreen patches. Imaging revealed an enhancing brain tuber and multiple cysts in her kidneys bilaterally. The patient met criteria for a diagnosis of tuberous sclerosis complex. Tuberous sclerosis complex is a genetic disorder that involves the growth of hamartomas in any organ system due to inactivating mutations in the TSC1 and/or TSC2 genes. The presence of periungual/ungual angiofibromas should prompt an evaluation for tuberous sclerosis complex.

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Koenen’s Tumors (Periungual Angiofibromas)

  • 章节

  • 发表日期：

    2025年

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  • David Smith,
  • Madelyn M. Class,
  • Ryan P. Johnson,
  • Nadia Abidi,
  • Laura Huang,
  • Andrew C. Krakowski

摘要

A 60-year-old female presented with angiofibromas on her face and oral mucosa along with periungual angiofibromas (Koenen’s tumors) on her fingers bilaterally. She did not have hypomelanotic macules, fibrous cephalic plaques, or Shagreen patches. Imaging revealed an enhancing brain tuber and multiple cysts in her kidneys bilaterally. The patient met criteria for a diagnosis of tuberous sclerosis complex. Tuberous sclerosis complex is a genetic disorder that involves the growth of hamartomas in any organ system due to inactivating mutations in the TSC1 and/or TSC2 genes. The presence of periungual/ungual angiofibromas should prompt an evaluation for tuberous sclerosis complex.