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

Abstract

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. Diagnosis is based upon the demonstration of the particular mutations in genetic analysis or the skin biopsy findings on electron microscopy or NOTCH3 immunostaining. We present 2 patients with multiple lacunar infarctions and family history of ischemic strokes without a specific cause. Both patients had a normal skin examination. Electron microscopy demonstrated granular, electron dense and osmiophilic material in the basal lamina of skin vessels. Diagnosis of CADASIL was confirmed upon the ultrastructural findings in the skin biopsy. Patients and their families were enrolled in a specific monitoring and control program. Dermatologists should know about the useful of biopsy in this type of disorder, because, genetic analysis and specific immunostaining are not accessible in all countries, including Chilean health centers. Skin biopsy with electron microscopy analysis provides a powerful tool for the diagnosis of this neurological disease and gives the clinician valuable information to initiate appropriate treatment for these patients.