CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy): diagnostic skin biopsy changes determined by electron microscopy.
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.
Walsh
J S
JS
Department of Dermatology, Mayo Clinic Jacksonville, Florida 32224, USA.
Perniciaro
C
C
Meschia
J F
JF
D001707:Biopsy, Needle; D015161:Dementia, Multi-Infarct / Q000175:diagnosis / Q000473:pathology*; D005260:Female; D006801:Humans; D008854:Microscopy, Electron; D008875:Middle Aged; D009131:Muscle, Smooth, Vascular / Q000648:ultrastructure; D012680:Sensitivity and Specificity; D012867:Skin / Q000473:pathology*