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CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy): diagnostic skin
J S Walsh1, C Perniciaro, J F Meschia
1Department of Dermatology, Mayo Clinic Jacksonville, Florida 32224, USA.
Insights
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare genetic vascular disease. Skin biopsy electron microscopy can diagnose CADASIL, aiding dermatologists in identifying this condition.
Area of Science:
- Neurology
- Genetics
- Dermatopathology
Background:
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebrovascular disorder.
- It manifests with migraines, strokes, and dementia.
- Diagnosis traditionally relies on clinical and neuroimaging findings, with ultrastructural confirmation.
Observation:
- Characteristic granular, electron-dense material on vascular smooth muscle cells is the ultrastructural hallmark of CADASIL.
- These pathological changes are observed in various tissues, including the brain, muscle, nerve, and skin.
- The study presents a case diagnosed using both brain and skin electron microscopy.
Findings:
- Electron microscopy of skin biopsy specimens revealed diagnostic ultrastructural changes consistent with CADASIL.
- This confirms the utility of skin biopsies in diagnosing this condition.
- The findings highlight the systemic nature of the vascular pathology in CADASIL.
Implications:
- Dermatologists and dermatopathologists should consider CADASIL in the differential diagnosis for patients with relevant symptoms.
- Skin biopsy offers a minimally invasive method for diagnosing CADASIL.
- Increased awareness can lead to earlier diagnosis and management of CADASIL, potentially improving patient outcomes.
Abstract:
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a familial vascular disorder associated with migraines, recurrent ischemic strokes, and early-onset multiinfarct dementia. The diagnosis of CADASIL is made ultrastructurally by finding characteristic granular, electron-dense, osmiophilic material attached to vascular smooth muscle cells. These changes have been found in brain, skeletal muscle, nerve, and skin. We describe a woman with CADASIL diagnosed on the basis of brain and skin electronmicroscopic findings. Dermatologists and dermatopathologists need to be aware of this disorder because characteristic electronmicroscopic changes on a skin biopsy specimen are diagnostic.
