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Familial Sneddon's syndrome.
Rosa Mascarenhas1, Gustavo Santo, Margarida Gonçalo
1Department of Dermatology, Neurology, University Hospital, 3000-075 Coimbra, Portugal.
European Journal of Dermatology : EJD
|June 14, 2003
Summary
Sneddon's Syndrome (SS), a condition linking Livedo Reticularis (LR) and Cerebrovascular Disease (CVD), can be familial. This study presents three brothers with SS, highlighting its potential autosomal dominant inheritance with incomplete penetrance.
Area of Science:
- Neurology
- Dermatology
- Genetics
Background:
- Sneddon's Syndrome (SS) is characterized by the association of Livedo Reticularis (LR) and Cerebrovascular Disease (CVD).
- While often sporadic, familial cases of SS have been documented, suggesting a genetic component.
Observation:
- This study details three brothers presenting with SS, including ischemic stroke and cerebral hemorrhages.
- All affected individuals exhibited persistent LR beyond the lower limbs.
- Skin biopsies revealed vascular abnormalities, including endothelium detachment and vessel obliteration with hyaline thrombi.
Findings:
- Extensive pro-coagulation and antiphospholipid antibody testing were negative in all patients.
- The affected kindred displayed a pattern suggestive of autosomal dominant inheritance with incomplete penetrance.
- The absence of antiphospholipid antibodies supports SS as a distinct nosological entity.
Implications:
- These findings contribute to the understanding of SS, particularly its familial occurrence and genetic underpinnings.
- The results challenge the direct link between SS and Antiphospholipid Antibody Syndrome, advocating for SS as an independent condition.
- Further research into the specific genetic and pathogenic mechanisms of SS is warranted.