Sneddon's syndrome: it is all in the ectoderm

Area of Science:

• Neurology
• Dermatology
• Vascular Medicine

Background:

• Sneddon's syndrome is a rare, non-inflammatory arteriopathy characterized by recurrent ischemic strokes and livedo reticularis.
• Diagnosis can be challenging due to overlapping symptoms with other conditions and negative antiphospholipid antibodies.

Observation:

• A 51-year-old male presented with progressive mobility issues, cognitive decline, headaches, and a history of cerebrovascular events including stroke, transient ischemic attacks, and intraventricular hemorrhage.
• Physical examination revealed livedo reticularis, perniosis, and a systolic murmur.
• Cerebral angiography demonstrated peripheral small and medium vessel vasculopathy with vessel pruning and collateral formation. Skin biopsy showed capillary and venule ectasia without overt vasculitis or thrombosis.

Findings:

• The patient's clinical presentation, imaging, and biopsy results strongly supported a diagnosis of Sneddon's syndrome.
• Antiphospholipid antibody tests were repeatedly negative, highlighting the importance of considering Sneddon's syndrome even without these markers.

Implications:

• Sneddon's syndrome should be considered in the differential diagnosis for patients presenting with livedo reticularis and stroke.
• The coexistence of ischemic and hemorrhagic cerebral events in Sneddon's syndrome poses significant treatment dilemmas for clinicians.