Restrictive dermopathy explained

Restrictive dermopathy
Synonyms:	Hyperkeratosis-contracture syndrome, Lethal restrictive dermopathy

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.^[1]

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.^[2] 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

Notes and References

1. James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. .
2. Young SG, Meta M, Yang SH, Fong LG . December 2006 . Prelamin A farnesylation and progeroid syndromes . J. Biol. Chem. . 281 . 52 . 39741–39745 . 10.1074/jbc.R600033200 . 17090536 . free.