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
| Restrictive dermopathy | |
|---|---|
| Other names | Hyperkeratosis-contracture syndrome, Lethal restrictive dermopathy |
 | |
| Restrictive dermopathy is inherited in an autosomal recessive manner[1] | |
| Specialty | Medical genetics  |
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.[citation needed]
Diagnosis
Treatment
See also
- Relapsing linear acantholytic dermatosis
- List of cutaneous conditions
- Lamellar ichthyosis – Possible differential diagnosis