Restrictive dermopathy
Template:Infobox medical condition (new) 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]Template:Rp
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.[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.Script error: No such module "Unsubst".
Diagnosis
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Treatment
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See also
- Relapsing linear acantholytic dermatosis
- List of cutaneous conditions
- Lamellar ichthyosis – Possible differential diagnosis
References
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- ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. Template:ISBN.
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