Restrictive dermopathy: Case report, subject review with Kaplan-Meier analysis, and differential diagnosis of the lethal congenital contractural syndromes

We report on a 34-week-old infant with restrictive dermopathy (RD), a rare lethal genodermatosis, characterized by an abnormal skin growth and differe ntiation with thin, tightly adherent skin that causes a dysmorphic face, ge neralized flexion joint contractures, and respiratory insufficiency. Kaplan -Meier analysis of 32 previously well-described infants affected with RD sh owed a median survival of 132 hours. Lethal congenital contractural syndrom es, 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.