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Familial Sneddon's syndrome

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We report the familial occurrence and apparent autosomal dominant inheritance of Sneddon's syndrome with variable clinical expression. The proband, a 40-year-old woman, presented with livedo reticularis and progressive neurological deterioration following a stroke. The diagnosis was confirmed by cerebral angiogram and skin biopsy, both showing the characteristic findings. Two of the patient's sisters were reported to have been similarly affected in the past. Her mother, two additional siblings and five of her seven children exhibited various vasospastic skin phenomena. Familial aggregation of this disorder may be common and a genetic basis may be involved in its pathogenesis.

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Correspondence to Alexander Lossos.

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Lossos, A., Ben-Hur, T., Ben-Nariah, Z. et al. Familial Sneddon's syndrome. J Neurol 242, 164–168 (1995). https://doi.org/10.1007/BF00936890

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Key words

  • Sneddon's syndrome
  • Livedo reticularis
  • Antiphospholipid antibodies
  • Genetic cerebrovascular disorder