Document Detail

Restrictive dermopathy: report of one case and the metabolic and post-mortem findings.
MedLine Citation:
PMID:  19102058     Owner:  NLM     Status:  MEDLINE    
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.
Ming-Chou Chiang; Shiu-Feng Huang; Chuen Hsueh; Ming-Wei Lai; Jia-Woei Hou
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  The Turkish journal of pediatrics     Volume:  50     ISSN:  0041-4301     ISO Abbreviation:  Turk. J. Pediatr.     Publication Date:    2008 Sep-Oct
Date Detail:
Created Date:  2008-12-23     Completed Date:  2009-01-09     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0417505     Medline TA:  Turk J Pediatr     Country:  Turkey    
Other Details:
Languages:  eng     Pagination:  492-4     Citation Subset:  IM    
Department of Pediatrics, Chang Gung Children's Hospital, Chang Gung University College of Medicine, Taoyuan, Taiwan.
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MeSH Terms
Biological Markers / blood,  urine
Carnitine / metabolism*
Diagnosis, Differential
Fatal Outcome
Gas Chromatography-Mass Spectrometry
Infant, Newborn
Skin / pathology*
Skin Diseases / congenital,  metabolism*,  pathology*
Tyrosine / analogs & derivatives,  blood,  urine
Reg. No./Substance:
0/Biological Markers; 537-55-3/N-acetyltyrosine; 541-15-1/Carnitine; 55520-40-6/Tyrosine

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