18756 Skin biopsy for the diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: A report of two cases

Skin biopsy has become a useful tool for the diagnosis of extracutaneous diseases as a relatively benign procedure with a good performance. The evaluation of dermal and epidermal innervation and vasculature show distinct changes that support the diagnosis of specific neurologic diseases. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited angiopathy caused by mutations in the NOTCH3 gene on chromosome 19. It is characterized by stroke and vascular cognitive impairment in the young and other neurological manifestations.
Source: Journal of the American Academy of Dermatology - Category: Dermatology Authors: Source Type: research