title: [Restrictive dermopathy].
abstract: Restrictive dermopathy is a rare, fatal, autosomal recessive, congenital skin disease. Rigidity of translucent thin skin, which is thus highly vulnerable and tears, spontaneously causes intra-uterine fetal akinesia or hypokinesia deformation sequence (FADS), characteristic dysmorphic facies with fixed open mouth in O position, and generalized joint contractures (arthrogryposis). Polyhydramnios and pulmonary hypoplasia are distinctive manifestations, leading to respiratory insufficiency and premature delivery at about 31 weeks of gestation. We report on a case of a prematurely born infant who presented with the typical morphological features and describe the light- and electron-microscopical findings as described in the literature.
authors.affiliation: Institut für Pathologie, Klinikum Kassel.
authors.forename: C
authors.initials: C
authors.lastname: Gross
authors.forename: I
authors.initials: I
authors.lastname: Hausser
authors.forename: A
authors.initials: A
authors.lastname: von der Wense
authors.forename: C
authors.initials: C
authors.lastname: Langner
authors.forename: W
authors.initials: W
authors.lastname: Simoens
authors.forename: O
authors.initials: O
authors.lastname: Bau
authors.forename: R
authors.initials: R
authors.lastname: Rompel
authors.forename: W
authors.initials: W
authors.lastname: Meyer
authors.forename: J
authors.initials: J
authors.lastname: Rüschoff
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D004476:Ectodermal Dysplasia / Q000235:genetics / Q000473:pathology*; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008854:Microscopy, Electron; D012867:Skin / Q000473:pathology; D012873:Skin Diseases, Genetic / Q000235:genetics / Q000473:pathology*
vernacular_title: Restriktive Dermopathiey.