Restrictive dermopathy

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Restrictive dermopathy
Classification and external resources
ICD-10	Q82.8
OMIM	275210
DiseasesDB	32974

Restrictive dermopathy is a rare, lethal autosomal recessive skin condition characterized by abnormal facies, tight skin, sparse or absent eyelashes, and secondary joint changes.^[1]^: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 (progerin) 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.

References

↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
↑ 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.

Progeroid syndromes

DNA repair

RecQ-associated	Werner syndrome Bloom syndrome Rothmund–Thomson syndrome

NER protein-associated	Cockayne syndrome Xeroderma pigmentosum Trichothiodystrophy

Lamin A/C

Hutchinson–Gilford progeria syndrome
Restrictive dermopathy

Other/Related disorders

See also: DNA replication and repair-deficiency disorder

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