Restrictive dermopathy due to ZMPSTE24 deficiency.

Restrictive dermopathy (OMIM 275210) is a rare, lethal genodermatosis belonging to the group of laminopathies. It is caused by biallelic variants in ZMPSTE24, which is involved in lamin A post-translational processing or, less frequently, by monoallelic variants in LMNA, leading to accumulation of truncated prelamin A protein (Navarro et al., 2004, 2005). The main characteristics of restrictive dermopathy include intrauterine growth retardation (IUGR), reduced fetal movement, premature rupture of membranes, translucent rigid skin, dysmorphic features and joint contractures. The prognosis is poor with all reported cases resulting in stillbirth or neonatal death (Navarro et al., 2014).