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Reed's Syndrome.

Filipa Tavares Almeida1, Rui P Santos1, Sofia D Carvalho2

  • 1Department of Dermatovenereology, Hospital De Braga, Braga, Portugal.

Indian Journal of Dermatology
|June 26, 2018
PubMed
Summary
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See all related articles

Multiple cutaneous and uterine leiomyomatosis (MCUL), or Reed's syndrome, is a rare genetic disorder caused by fumarate hydratase gene mutations. This case highlights cutaneous leiomyomas as the initial sign of this condition.

Area of Science:

  • Dermatology
  • Genetics
  • Oncology

Background:

  • Multiple cutaneous and uterine leiomyomatosis (MCUL), also known as Reed's syndrome, is a rare autosomal dominant genodermatosis.
  • It stems from germline heterozygous mutations in the fumarate hydratase (FH) gene, a tumor suppressor.
  • Hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome links MCUL with renal cell carcinoma.

Purpose of the Study:

  • To report a case of Reed's syndrome presenting with multiple cutaneous leiomyomas.
  • To emphasize the clinical presentation of this rare genodermatosis.

Main Methods:

  • Case report of a 57-year-old woman.
  • Clinical evaluation focusing on dermatological signs.

Main Results:

Keywords:
Fumarate hydrataseleiomyomatosisrenal cell cancer

Related Experiment Videos

  • The patient presented with multiple cutaneous leiomyomas.
  • These cutaneous leiomyomas were the initial manifestation of Reed's syndrome.

Conclusions:

  • Multiple cutaneous leiomyomas can be the presenting sign of Reed's syndrome.
  • Early recognition of cutaneous manifestations is crucial for diagnosing this rare genetic disorder.