Familial Sneddon's syndrome |
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Authors: | Alexander Lossos Tamir Ben-Hur Ziva Ben-Nariah Claes Enk Moshe Gomori Dov Soffer |
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Affiliation: | (1) Department of Neurology, Hadassah University Hospital, POB 12000, 91120 Jerusalem, Israel;(2) Department of Medical Genetics, Hadassah University Hospital, Jerusalem, Israel;(3) Department of Dermatology, Hadassah University Hospital, Jerusalem, Israel;(4) Department of Radiology, Hadassah University Hospital, Jerusalem, Israel;(5) Department of Pathology (Neuropathology), Hadassah University Hospital, Jerusalem, Israel |
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Abstract: | 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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Keywords: | Sneddon's syndrome Livedo reticularis Antiphospholipid antibodies Genetic cerebrovascular disorder |
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