Restrictive dermopathy

Restrictive dermopathy
Other names	Hyperkeratosis-contracture syndrome, Lethal restrictive dermopathy
File:Autosomal recessive - en.svg
Restrictive dermopathy is inherited in an autosomal recessive manner

Restrictive dermopathy (RD) is a rare, lethal autosomal recessive skin condition characterized by syndromic facies, tight skin, sparse or absent eyelashes, and secondary joint changes.

Mechanism

Restrictive dermopathy 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.

See also

• Relapsing linear acantholytic dermatosis
• List of cutaneous conditions
• Lamellar ichthyosis – Possible differential diagnosis