Restrictive dermopathy due to ZMPSTE24 deficiency.

Restrictive dermopathy (RD) (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; Navarro et al., 2005). The main characteristics of RD 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). Herein we report a neonate born to healthy, non-consanguineous parents from Greece. The pregnancy was uneventful until the 32nd week, when a routine scan showed severe fetal growth restriction with normal Doppler flows. The female proband was born at 33 weeks of gestation by caesarean section, due to premature rupture of membranes, as well as anhydramnios, IUGR, fetal hypokinesia and distress. Her birth weight was 1.36 kg (5th centile, −1.6SD), length was 41 cm (14th centile) and head circumference was 29 cm (14th centile). Apgar score was 4 and 8 at the 1st and 5th minutes, respectively. She required immediate intubation and admission to the neonatal intensive care unit. She had a large fontanelle, short palpebral fissures, a small pinched nose, low-set dysplastic ears and an open, O-shaped mouth (Fig. 1). She had multiple joint contractures. Her skin was rigid and translucent and progressively developed erosions and scaling. She did not have eyebrows or eyelashes. She had severe lung hypoplasia and died of respiratory insufficiency on the 22nd day of life.