Restrictive dermopathy

Definition:

Restrictive dermopathy (RD) is a rare, lethal autosomal recessive genodermatosis caused by mutations in either LMNA or ZMPSTE24. Manifestations include a tight, thin, translucent skin, typical face, multiple joint contractures, enlarged fontanelles, and dysplasia of clavicles.

References:

[1]. Claire L Navarro, et al. Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet. 2004 Oct 15;13(20):2493-503. [Content Brief]

[2]. Jeffrey H Miner, et al. Restrictive dermopathy and ZMPSTE24 mutations in Mennonites: Evidence for allelic heterogeneity. Am J Med Genet A. 2010 Aug;152A(8):2140-1; author reply 2142. [Content Brief]

[3]. Paulo Morais, et al. Restrictive dermopathy--a lethal congenital laminopathy. Case report and review of the literature. Eur J Pediatr. 2009 Aug;168(8):1007-12. [Content Brief]

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