Raynaud's phenomenon is a vasospastic disorder clinically characterized by cold or stress-induced discoloration of the skin, pain and ulcers of the fingers or toes. Although this phenomenon might... Show moreRaynaud's phenomenon is a vasospastic disorder clinically characterized by cold or stress-induced discoloration of the skin, pain and ulcers of the fingers or toes. Although this phenomenon might be self-limiting, there is a subgroup of patients requiring a therapeutic approach. The majority of patients do well on conservative measures; however, there is also a subgroup requiring systemic treatment. The efficacy of these systemic treatments is currently not thoroughly investigated. Furthermore, no uniform guidelines exist regarding the choice for a treatment option. In the past several years, several reports have shown the benefits of botulinum toxin for the treatment of Raynaud's phenomenon. In this case series, we report our experience with botulinum toxin type A in the treatment of Raynaud's phenomenon. Show less
BackgroundRetinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a small vessel disease caused by C-terminal truncating TREX1 mutations. The disease is... Show moreBackgroundRetinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a small vessel disease caused by C-terminal truncating TREX1 mutations. The disease is typically characterized by vascular retinopathy and focal and global brain dysfunction. Systemic manifestations have also been reported but not yet systematically investigated.MethodsIn a cross-sectional study, we compared the clinical characteristics of 33 TREX1 mutation carriers (MC+) from three Dutch RVCL-S families with those of 37 family members without TREX1 mutation (MC-). All participants were investigated using personal interviews, questionnaires, physical, neurological and neuropsychological examinations, blood and urine tests, and brain MRI.ResultsIn MC+, vascular retinopathy and Raynaud's phenomenon were the earliest symptoms presenting from age 20 onwards. Kidney disease became manifest from around age 35, followed by liver disease, anaemia, markers of inflammation and, in some MC+, migraine and subclinical hypothyroidism, all from age 40. Cerebral deficits usually started mildly around age 50, associated with white matter and intracerebral mass lesions, and becoming severe around age 60-65.ConclusionsRetinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations is a rare, but likely underdiagnosed, systemic small vessel disease typically starting with vascular retinopathy, followed by multiple internal organ disease, progressive brain dysfunction, and ultimately premature death. Show less
