title: Restrictive dermopathy: report of one case and the metabolic and post-mortem findings.
abstract: Restrictive dermopathy is a rare and lethal autosomal recessive genodermatosis characterized by tight skin, typical dysmorphic face, generalized arthrogryposis and pulmonary hypoplasia. Infants with restrictive dermopathy have similar findings in skin biopsy, but other abnormalities are unremarkable. We report a male preterm infant with restrictive dermopathy. The post-mortem examination revealed hypoplasia of the thymus, and the metabolic study of the urine and blood disclosed generalized organic aciduria and low free carnitine level. These data imply that restrictive dermopathy is associated with certain degrees of metabolic disturbance. With increasing reports of restrictive dermopathy, the affected infants can be diagnosed earlier and accurately.
authors.affiliation: Department of Pediatrics, Chang Gung Children's Hospital, Chang Gung University College of Medicine, Taoyuan, Taiwan.
authors.forename: Ming-Chou
authors.initials: MC
authors.lastname: Chiang
authors.forename: Shiu-Feng
authors.initials: SF
authors.lastname: Huang
authors.forename: Chuen
authors.initials: C
authors.lastname: Hsueh
authors.forename: Ming-Wei
authors.initials: MW
authors.lastname: Lai
authors.forename: Jia-Woei
authors.initials: JW
authors.lastname: Hou
mesh_terms: D001344:Autopsy; D015415:Biomarkers / Q000097:blood / Q000652:urine; D002331:Carnitine / Q000378:metabolism*; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012867:Skin / Q000473:pathology*; D012871:Skin Diseases / Q000151:congenital / Q000378:metabolism* / Q000473:pathology*; D014443:Tyrosine / Q000031:analogs & derivatives / Q000097:blood / Q000652:urine
chemical_list: D015415:Biomarkers; D014443:Tyrosine; C025787:N-acetyltyrosine; D002331:Carnitine