CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy): a neurovascular disease diagnosed by ultrastructural examination of the skin.
BACKGROUND
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a recently recognized neurovascular disease due to mutations of the Notch3 gene, manifesting with strokes or stroke-like episodes, major psychiatric symptoms and dementia. The diagnosis can be confirmed either by molecular analysis or by ultrastructural examination of the brain or more simply the skin.


METHODS
The skin of a patient with a suspected diagnosis of CADASIL was studied by electron microscopy.


RESULTS
Characteristic granular osmiophilic material within the basement membrane surrounding pericytes and smooth muscle cells of small and medium-sized vessels of the skin were found, confirming the diagnosis of CADASIL.


CONCLUSIONS
CADASIL is an additional example of a neurologic disease that can be diagnosed thanks to electron microscopic examination of the skin. Dermatopathologists should be aware of these ultrastructural findings, all the more so since the disease could be more common than originally thought.
Department of Dermatology, Hôpital Ed. Herriot, Lyon, France. kanitak@lyon151.inserm.fr
Jean
J
Kanitakis
Stéphane
S
Thobois
Alain
A
Claudy
Emmanuel
E
Broussolle
D001485:Basement Membrane / Q000473:pathology / Q000648:ultrastructure; D001706:Biopsy; D015161:Dementia, Multi-Infarct / Q000175:diagnosis / Q000473:pathology*; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D020286:Pericytes / Q000473:pathology / Q000648:ultrastructure; D012867:Skin / Q000098:blood supply / Q000473:pathology* / Q000648:ultrastructure*