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