2018 Volume 80 Issue 3 Pages 205-208
We report a Japanese male baby with a rare syndrome of restrictive dermopathy. His parents were non-consanguineous. He was born by Caesarean section after 34 weeks of gestation. The baby presented with tight, translucent skin through which the blood vessels could be seen, as well as skin erosions, a dysmorphic face, and multiple joint contractures. He died 20 minutes after birth. A histologic examination of the skin revealed parakeratosis, a lack of rete ridges in the epidermis, hypoplasia of the appendages, and a depletion of elastic fibers in the dermis. Gene analyses of the patient and his parents were performed and mutations in ZMPSTE24 were detected. Restrictive dermopathy is a lethal neonatal laminopathy. The laminopathies are a heterogeneous group of human disorders caused by a dysfunction of lamin A, which is thought to have roles in maintaining nuclear structures, regulating transcription, controlling differentiation, and organizing chromatin. The endoprotease ZMPSTE24, which is a lamin-binding protein, is required for the post-translational processing of the lamin A precursor (prelamin A) encoded by LMNA. In most restrictive dermopathy patients, a common mutation in the ZMPSTE24 gene leads to prelamin A accumulation in cells.
