CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy): Diagnostic skin biopsy changes determined by electron microscopy

John S. Walsh, Charles Perniciaro, James F. Meschia

Research output: Contribution to journalArticlepeer-review

22 Scopus citations

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 multi-infarct 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.

Original languageEnglish (US)
Pages (from-to)1125-1127
Number of pages3
JournalJournal of the American Academy of Dermatology
Volume43
Issue number6
DOIs
StatePublished - 2000

ASJC Scopus subject areas

  • Dermatology

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