Multiple cutaneous and uterine leiomyomatosis: Reed's syndrome

BMJ Case Rep. 2024 Feb 27;17(2):e258509. doi: 10.1136/bcr-2023-258509.

Abstract

Reed's syndrome (RS) is a rare autosomal-dominant disorder characterised by multiple cutaneous and uterine leiomyomas, with a strong tendency for renal cell carcinoma (RCC) development. A woman in her 50s, who had previously undergone total abdominal hysterectomy due to multiple uterine leiomyomas, presented with painful nodules on her trunk and right arm for the past 6 years. These nodules were confirmed as leiomyomas through histopathology. Diagnosis of RS was established through clinicopathological correlation and positive family history, particularly her mother's. Early-onset uterine leiomyomas in patients with a similar family history should raise suspicion for RS, necessitating vigilant long-term follow-up. RCC detection requires mandatory renal imaging. Screening family members and providing genetic counselling are crucial.

Keywords: Dermatology; General practice / family medicine; Genetics; Obstetrics and gynaecology.

Publication types

  • Case Reports

MeSH terms

  • Carcinoma, Renal Cell* / genetics
  • Female
  • Fumarate Hydratase / genetics
  • Humans
  • Kidney Neoplasms* / genetics
  • Leiomyomatosis* / diagnostic imaging
  • Leiomyomatosis* / surgery
  • Neoplastic Syndromes, Hereditary* / diagnosis
  • Neoplastic Syndromes, Hereditary* / pathology
  • Neoplastic Syndromes, Hereditary* / surgery
  • Skin Neoplasms* / diagnosis
  • Skin Neoplasms* / genetics
  • Skin Neoplasms* / surgery
  • Uterine Neoplasms* / diagnostic imaging
  • Uterine Neoplasms* / surgery

Substances

  • Fumarate Hydratase

Supplementary concepts

  • Hereditary leiomyomatosis and renal cell cancer