title: Restrictive dermopathy. Molecular diagnosis of restrictive dermopathy in a stillborn fetus from a consanguineous Iranian family.
abstract: Restrictive dermopathy (RD), is an autosomal recessive lethal human genetic disorder. It is characterized by intrauterine growth retardation, tight and rigid skin with erosions, multiple joint contractures, lung hypoplasia, prominent superficial vasculature, and epidermal hyperkeratosis. In the present report, we describe the first case of restrictive dermopathy in a stillborn fetus of Iranian origin, confirmed by molecular genetic diagnosis. In the index case (G-30159), a homozygous one base insertion in ZMPSTE24 exon 9 (c.1085-1086insT) was identified.We believe that by increasing awareness of this disease in clinicians, gynecologists, and pathologists, we may be able to help families who have had suspected cases of restrictive dermopathy be diagnosed, and offer molecular testing in carriers, and prenatal diagnosis to prevent the occurrence of further affected cases.
authors.affiliation: Department of Kariminejad Najmabadi Pathology & Genetics Center, #1143 Medical Bldg., PO Box 1466713713, Sanat Sq. Shahrak Gharb, Tehran, Iran. arianakariminejad@yahoo.com
authors.forename: Ariana
authors.initials: A
authors.lastname: Kariminejad
authors.forename: Peyman
authors.initials: P
authors.lastname: Goodarzi
authors.forename: Le Thi
authors.initials: le T
authors.lastname: Thanh Huong
authors.forename: Manfred S
authors.initials: MS
authors.lastname: Wehnert
mesh_terms: D003241:Consanguinity; D005091:Exons; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D006720:Homozygote; D006801:Humans; D007492:Iran; D012871:Skin Diseases / Q000175:diagnosis* / Q000235:genetics; D050497:Stillbirth