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Familial Sneddon's syndrome

A Lossos1, T Ben-Hur, Z Ben-Nariah

  • 1Department of Neurology, Hadassah University Hospital, Jerusalem, Israel.

Journal of Neurology
|February 1, 1995
PubMed
Summary
This summary is machine-generated.

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Sneddon's syndrome, a rare condition causing skin and neurological issues, appears to run in families. Autosomal dominant inheritance with varied symptoms suggests a genetic cause for this disorder.

Area of Science:

  • Neurology
  • Genetics
  • Dermatology

Background:

  • Sneddon's syndrome is a rare, idiopathic condition characterized by livedo reticularis and cerebrovascular disease.
  • Its pathogenesis and inheritance patterns remain incompletely understood.

Observation:

  • The proband, a 40-year-old woman, presented with livedo reticularis and neurological decline post-stroke.
  • Cerebral angiogram and skin biopsy confirmed Sneddon's syndrome.
  • Two sisters had similar past symptoms; mother, two siblings, and five children displayed vasospastic skin phenomena.

Findings:

  • This case demonstrates familial occurrence of Sneddon's syndrome.
  • The pattern suggests apparent autosomal dominant inheritance with variable clinical expression.
  • Genetic factors likely play a role in the pathogenesis of Sneddon's syndrome.

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Implications:

  • Familial aggregation of Sneddon's syndrome may be more common than previously thought.
  • Identifying a genetic basis can aid in diagnosis and understanding the disorder.
  • Further research into the genetic underpinnings is warranted to explore potential therapeutic targets.