title: Restrictive dermopathy: case report, subject review with Kaplan-Meier analysis, and differential diagnosis of the lethal congenital contractural syndromes.
abstract: We report on a 34-week-old infant with restrictive dermopathy (RD), a rare lethal genodermatosis, characterized by an abnormal skin growth and differentiation with thin, tightly adherent skin that causes a dysmorphic face, generalized flexion joint contractures, and respiratory insufficiency. Kaplan-Meier analysis of 32 previously well-described infants affected with RD showed a median survival of 132 hours. Lethal congenital contractural syndromes, including Pena-Shokeir phenotype, cerebro-oculo facio-skeletal syndrome, and lethal multiple pterygium syndrome, should be considered first in the differential diagnosis. Other lethal contractural syndromes are discussed.
authors.affiliation: Institute of Pathology, Children's Hospital, University of Heidelberg, Germany.
authors.forename: C
authors.initials: C
authors.lastname: Sergi
authors.forename: J
authors.initials: J
authors.lastname: Poeschl
authors.forename: M
authors.initials: M
authors.lastname: Graf
authors.forename: O
authors.initials: O
authors.lastname: Linderkamp
mesh_terms: D003286:Contracture / Q000151:congenital / Q000175:diagnosis* / Q000473:pathology; D003937:Diagnosis, Differential; D005145:Face / Q000002:abnormalities; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D012127:Respiratory Distress Syndrome, Newborn / Q000209:etiology; D012867:Skin; D012871:Skin Diseases / Q000151:congenital / Q000175:diagnosis* / Q000473:pathology; D016019:Survival Analysis