Specialty medical genetics OMIM 275210 | ICD-10 Q82.8 DiseasesDB 32974 | |
Restrictive dermopathy is a rare, lethal autosomal recessive skin condition characterized by abnormal faces, tight skin, sparse or absent eyelashes, and secondary joint changes.
Mechanism
Restrictive dermopathy (RD) is caused either by the loss of the gene ZMPSTE24, which encodes a protein responsible for the cleavage of farnesylated prelamin A into mature non-farnesylated lamin, or by a mutation in the LMNA gene. This results in the accumulation of farnesyl-prelamin A at the nuclear membrane. 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.
References
Restrictive dermopathy Wikipedia(Text) CC BY-SA