Different types of connective tissue alterations associated with cervical artery dissections
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This study describes the technical handling and the diagnostic evaluation of skin biopsies in order to standardize the assessment of the delicate morphologic abnormalities that are found in patients with spontaneous cervical artery dissections (sCAD). Skin biopsies from 126 patients with sCAD and from 29 healthy relatives were analyzed. The morphology of the connective tissue was normal in 54 patients with sCAD (43%) and aberrant in 72 patients with sCAD (57%). These latter patients were classified into three groups: in 43 patients, we repeatedly observed composite collagen fibrils and elastic fibers with fragmentation and minicalcifications. In 13 further patients, the dermis was significantly thinner than in healthy subjects. The collagen fibers contained fibrils with highly variable diameters. In a third group of 16 sCAD patients, the abnormalities were restricted to the elastic fibers (with fragmentation and minicalcifications) without significant alterations in the morphology of the collagen fibrils. The finding of different morphologic classes of aberrations among patients suggests that the connective tissue defects are genetically heterogeneous. The segregation of the connective tissue phenotype in three families suggested an autosomal dominant pattern of inheritance.
KeywordsSpontaneous cervical artery dissection Skin biopsy Connective tissue
We are indebted to Prof. Werner Hacke for excellent working conditions and to Inge Werner for technical assistance and for electron microscopic evaluations. UM was supported by a grant from the Deutsche Schlaganfall-Hilfe and Inge Werner by a grant from the Stroke Network of the Ministry of Science and Technology (BMBF). The work of S. Engelter and P. Lyrer was supported by the Hirnschlag-Fonds of the Stroke Unit, Basel, Switzerland.
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