title: Different types of connective tissue alterations associated with cervical artery dissections.
abstract: 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.
authors.affiliation: Department of Dermatology, University of Heidelberg, Heidelberg, Germany.
authors.forename: Ingrid
authors.initials: I
authors.lastname: Hausser
authors.forename: Uta
authors.initials: U
authors.lastname: Müller
authors.forename: Stefan
authors.initials: S
authors.lastname: Engelter
authors.forename: Philippe
authors.initials: P
authors.lastname: Lyrer
authors.forename: Alessandro
authors.initials: A
authors.lastname: Pezzini
authors.forename: Alessandro
authors.initials: A
authors.lastname: Padovani
authors.forename: Birgit
authors.initials: B
authors.lastname: Moormann
authors.forename: Otto
authors.initials: O
authors.lastname: Busse
authors.forename: Ralf
authors.initials: R
authors.lastname: Weber
authors.forename: Tobias
authors.initials: T
authors.lastname: Brandt
authors.forename: Caspar
authors.initials: C
authors.lastname: Grond-Ginsbach
mesh_terms: D001706:Biopsy / Q000379:methods; D003094:Collagen / Q000378:metabolism / Q000648:ultrastructure; D003240:Connective Tissue Diseases / Q000145:classification / Q000209:etiology / Q000473:pathology*; D004547:Elastic Tissue / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D012867:Skin / Q000473:pathology* / Q000648:ultrastructure; D020217:Vertebral Artery Dissection / Q000150:complications / Q000473:pathology*
chemical_list: D003094:Collagen