Restrictive dermopathy
| Restrictive dermopathy | |
|---|---|
| Other names | Hyperkeratosis-contracture syndrome, Lethal restrictive dermopathy |
 | |
| Restrictive dermopathy is inherited in an autosomal recessive manner[1] | |
| Specialty | Medical genetics  |
Restrictive dermopathy (RD) is a rare, lethal
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
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
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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
- ^ "OMIM Entry - # 275210 - RESTRICTIVE DERMOPATHY, LETHAL". omim.org. Retrieved 7 August 2017.
- ISBN 0-7216-2921-0.
- PMID 17090536.