Restrictive dermopathy: report of one case and the metabolic and post-mortem findings.
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.
Chiang
Ming-Chou
MC
Department of Pediatrics, Chang Gung Children's Hospital, Chang Gung University College of Medicine, Taoyuan, Taiwan.
Huang
Shiu-Feng
SF
Hsueh
Chuen
C
Lai
Ming-Wei
MW
Hou
Jia-Woei
JW
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
D015415:Biomarkers; D014443:Tyrosine; C025787:N-acetyltyrosine; D002331:Carnitine