Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Restrictive dermopathy
Introduction
Restrictive dermopathy is a rare, lethal autosomal recessive inherited progeroid disorder.
Mechanism
Mechanism
Restrictive dermopathy (RD) is caused by the loss of the gene ZMPSTE24, which encodes a protein responsible for the cleavage of farnesylated prelamin A (progerin) into mature non-farnesylated lamin. This results in the accumulation of farnesyl-prelamin A at the nuclear membrane.[1] Mechanistically, restrictive dermopathy is somewhat similar to Hutchinson-Gilford progeria syndrome (HGPS), a disease where the last step in lamin processing is hindered by a mutation that causes the loss of the ZMPSTE24 cleavage site in the lamin A gene.