Hoe stel je de diagnose syndroom van Sneddon?

Sneddon's syndrome is a rare disorder that mainly affects woman in early adult life (20-42 years). It is characterised by a generalised livedo racemosa with extracutaneous neurological symptoms and has a chronic progressive course. In about 50% of patients the livedo racemosa (an irregular netlike pattern on the trunk, arms and legs) precedes the development of neurological symptoms. The pathofysiological background is still unknown. The pathogenesis seems to involve a vasculopathy and/or vascular coagulopathy affecting small arteries and larger arterioles, especially in the skin and brain. The association with the antiphospholipid syndrome remains unclear. Risk factors for developing Sneddon's syndrome are smoking and oral contraception. Some familial cases have been described, but specific genes have not been identified so far. There is no consensus regarding diagnostic criteria for Sneddon's syndrome. Blood tests, skin biopsies, cranial CT/ MRI/MRA imaging are recommended. We review two cases and elaborate on the difficulties, challenges and multidisciplinary approach for diagnosing Sneddon's syndrome.