[Restrictive dermopathy].
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.
Gross
C
C
Institut für Pathologie, Klinikum Kassel.
Hausser
I
I
von der Wense
A
A
Langner
C
C
Simoens
W
W
Bau
O
O
Rompel
R
R
Meyer
W
W
Rüschoff
J
J
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*
Restriktive Dermopathiey.