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 unrem...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2008-10-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/2475 |
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| _version_ | 1850023871896354816 |
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| author | Ming-Chou Chiang Shiu-Feng Huang Chuen Hsueh Ming-Wei Lai Jia-Woei Hou |
| author_facet | Ming-Chou Chiang Shiu-Feng Huang Chuen Hsueh Ming-Wei Lai Jia-Woei Hou |
| author_sort | Ming-Chou Chiang |
| collection | DOAJ |
| description |
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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| format | Article |
| id | doaj-art-3c62a2d64fe84d7aa9a3222491ec1e57 |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2008-10-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-3c62a2d64fe84d7aa9a3222491ec1e572025-08-20T03:01:15ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212008-10-01505Restrictive dermopathy: report of one case and the metabolic and post-mortem findingsMing-Chou Chiang0Shiu-Feng HuangChuen HsuehMing-Wei LaiJia-Woei HouDepartment of Pediatrics, Chang Gung Children's Hospital, Chang Gung University College of Medicine, Taoyuan, Taiwan. 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. https://turkjpediatr.org/article/view/2475 |
| spellingShingle | Ming-Chou Chiang Shiu-Feng Huang Chuen Hsueh Ming-Wei Lai Jia-Woei Hou Restrictive dermopathy: report of one case and the metabolic and post-mortem findings The Turkish Journal of Pediatrics |
| title | Restrictive dermopathy: report of one case and the metabolic and post-mortem findings |
| title_full | Restrictive dermopathy: report of one case and the metabolic and post-mortem findings |
| title_fullStr | Restrictive dermopathy: report of one case and the metabolic and post-mortem findings |
| title_full_unstemmed | Restrictive dermopathy: report of one case and the metabolic and post-mortem findings |
| title_short | Restrictive dermopathy: report of one case and the metabolic and post-mortem findings |
| title_sort | restrictive dermopathy report of one case and the metabolic and post mortem findings |
| url | https://turkjpediatr.org/article/view/2475 |
| work_keys_str_mv | AT mingchouchiang restrictivedermopathyreportofonecaseandthemetabolicandpostmortemfindings AT shiufenghuang restrictivedermopathyreportofonecaseandthemetabolicandpostmortemfindings AT chuenhsueh restrictivedermopathyreportofonecaseandthemetabolicandpostmortemfindings AT mingweilai restrictivedermopathyreportofonecaseandthemetabolicandpostmortemfindings AT jiawoeihou restrictivedermopathyreportofonecaseandthemetabolicandpostmortemfindings |