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Restrictive dermopathy

A congenital genodermatosis with skin/mucosae involvement, characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities.

Epidermal hyperkeratosis

Total: 1

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PMID (PMCID)
26379196	MALE	Infant, Newborn
	Frame shift mutations of the ZMPSTE24 gene in two siblings with restrictive dermopathy.
	Matuleviien A, Mekien R, Morkunien A, Ambrozaityt L, Mekauskas R, Garunktien R, Drazdien N, Utkus A, Kuinskas V. Clin Dysmorphol. 2016;25(1):7-11.
	Restrictive dermopathy (RD) is a rare lethal autosomal recessive genodermatosis, characterized by abnormally rigid skin with prominent superficial vasculature, erosions and epidermal hyperkeratosis, dysplastic clavicles, joint contractures, mouth fixed in the 'O' position, small pinched nose, and neonatal death.