Multiple cutaneous and uterine leiomyomatosis (Reed's syndrome)

Dermatol Online J. 2005 Dec 30;11(4):21.

Abstract

A 51-year-old woman with a history of uterine fibroids status post myomectomy and hysterectomy presented for evaluation and treatment of intermittently painful papules of the left shoulder. Histopathologic examination showed a proliferation of smooth muscle fascicles consistent with the diagnosis of cutaneous leiomyomas. Genetic sequencing demonstrated a novel mutation in the fumarate hydratase gene that confirmed the diagnosis of Reed's syndrome. A subset of individuals with Reed's syndrome is predisposed to develop a papillary renal-cell carcinoma, so appropriate radiologic examinations should be performed. Treatment of the pain caused by cutaneous leiomyomas includes the use of nifedipine, nitroglycerine, phenoxybenzamine, surgical excision, and carbon dioxide laser ablation.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Fumarate Hydratase / genetics
  • Humans
  • Leiomyomatosis / diagnosis
  • Leiomyomatosis / genetics
  • Leiomyomatosis / pathology*
  • Middle Aged
  • Point Mutation
  • Skin Neoplasms / diagnosis
  • Skin Neoplasms / genetics
  • Skin Neoplasms / pathology*
  • Syndrome
  • Uterine Neoplasms / diagnosis
  • Uterine Neoplasms / genetics
  • Uterine Neoplasms / pathology*

Substances

  • Fumarate Hydratase