Restrictive dermopathy
Other namesHyperkeratosis-contracture syndrome, Lethal restrictive dermopathy
Restrictive dermopathy is inherited in an autosomal recessive manner[1]
SpecialtyMedical genetics Edit this on Wikidata

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.[2]: 563 

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.[3] 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.

Diagnosis

Treatment

See also

References

  1. ↑ "OMIM Entry - # 275210 - RESTRICTIVE DERMOPATHY, LETHAL". omim.org. Retrieved 7 August 2017.
  2. ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  3. ↑ Young SG, Meta M, Yang SH, Fong LG (December 2006). "Prelamin A farnesylation and progeroid syndromes". J. Biol. Chem. 281 (52): 39741–39745. doi:10.1074/jbc.R600033200. PMID 17090536.
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