Hereditary leiomyomatosis and renal cell carcinoma (HLRCC)

  • AD; fumarate hydratase mutations
    • Involved in Krebs cycle
  • AKA Reed syndrome
  • Multiple cutaneous pilar leiomyomas
    • Painful red-brown papules, clustered often on shoulder
    • Pseudo Darier’s sign - stroking leads to contraction of smooth muscle - redness, pain
  • Multiple uterine leiomyomas
    • Family history hysterectomy at early age - dysmenorrhea
  • Renal cell carcinoma (15%), renal cysts
    • Aggressive, bilateral
    • Type 2 papillary RCC