Restrictive Dermopathy: Report of Two Siblings
Restrictive dermopathy (RD) is a rare and lethal autosomal recessive syndrome characterized by very tight, thin, and easily eroded skin and contracture of joints. We present two siblings in a family. Case 1, a female neonate, showed mild characteristic presentations of RD and survived for 16 days, a...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2013-06-01
|
| Series: | Pediatrics and Neonatology |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1875957212001878 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850245472456802304 |
|---|---|
| author | Chih-Sheng Lu Shu-Chuan Wu Jia-Woei Hou Chih-Ping Chu Lo-Lin Tseng Hung-Chi Lue |
| author_facet | Chih-Sheng Lu Shu-Chuan Wu Jia-Woei Hou Chih-Ping Chu Lo-Lin Tseng Hung-Chi Lue |
| author_sort | Chih-Sheng Lu |
| collection | DOAJ |
| description | Restrictive dermopathy (RD) is a rare and lethal autosomal recessive syndrome characterized by very tight, thin, and easily eroded skin and contracture of joints. We present two siblings in a family. Case 1, a female neonate, showed mild characteristic presentations of RD and survived for 16 days, and Case 2, a male neonate, was stillborn with typical severe features of RD. His skin biopsy showed typical histological findings, and genetic study revealed a homozygous nonsense mutation on the exon 6 of zinc metalloproteinase STE24 (ZMPSTE24). The exact pathogenic mechanism of RD remains poorly understood. The most recent studies on mutations in lamin A and/or ZMPSTE24 have shed some light on the pathophysiology of RD and may help direct the development of future therapeutic approaches. |
| format | Article |
| id | doaj-art-0ddf2fa1d9c64e27888436015e12ca4c |
| institution | OA Journals |
| issn | 1875-9572 |
| language | English |
| publishDate | 2013-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Pediatrics and Neonatology |
| spelling | doaj-art-0ddf2fa1d9c64e27888436015e12ca4c2025-08-20T01:59:27ZengElsevierPediatrics and Neonatology1875-95722013-06-0154319820110.1016/j.pedneo.2012.11.012Restrictive Dermopathy: Report of Two SiblingsChih-Sheng Lu0Shu-Chuan Wu1Jia-Woei Hou2Chih-Ping Chu3Lo-Lin Tseng4Hung-Chi Lue5Department of Pediatrics, Saint Mary's Hospital Luodong, Luodong, Yilan County, TaiwanDepartment of Pediatrics, Saint Mary's Hospital Luodong, Luodong, Yilan County, TaiwanDivision of Medical Genetics, Department of Pediatrics, Cathay General Hospital, Taipei, TaiwanDepartment of Pathology, Saint Mary's Hospital Luodong, Luodong, Yilan County, TaiwanDepartment of Pediatrics, Saint Mary's Hospital Luodong, Luodong, Yilan County, TaiwanDepartment of Pediatrics, Saint Mary's Hospital Luodong, Luodong, Yilan County, TaiwanRestrictive dermopathy (RD) is a rare and lethal autosomal recessive syndrome characterized by very tight, thin, and easily eroded skin and contracture of joints. We present two siblings in a family. Case 1, a female neonate, showed mild characteristic presentations of RD and survived for 16 days, and Case 2, a male neonate, was stillborn with typical severe features of RD. His skin biopsy showed typical histological findings, and genetic study revealed a homozygous nonsense mutation on the exon 6 of zinc metalloproteinase STE24 (ZMPSTE24). The exact pathogenic mechanism of RD remains poorly understood. The most recent studies on mutations in lamin A and/or ZMPSTE24 have shed some light on the pathophysiology of RD and may help direct the development of future therapeutic approaches.http://www.sciencedirect.com/science/article/pii/S1875957212001878congenital anomalygenetic analysisrestrictive dermopathyZMPSTE24 gene |
| spellingShingle | Chih-Sheng Lu Shu-Chuan Wu Jia-Woei Hou Chih-Ping Chu Lo-Lin Tseng Hung-Chi Lue Restrictive Dermopathy: Report of Two Siblings Pediatrics and Neonatology congenital anomaly genetic analysis restrictive dermopathy ZMPSTE24 gene |
| title | Restrictive Dermopathy: Report of Two Siblings |
| title_full | Restrictive Dermopathy: Report of Two Siblings |
| title_fullStr | Restrictive Dermopathy: Report of Two Siblings |
| title_full_unstemmed | Restrictive Dermopathy: Report of Two Siblings |
| title_short | Restrictive Dermopathy: Report of Two Siblings |
| title_sort | restrictive dermopathy report of two siblings |
| topic | congenital anomaly genetic analysis restrictive dermopathy ZMPSTE24 gene |
| url | http://www.sciencedirect.com/science/article/pii/S1875957212001878 |
| work_keys_str_mv | AT chihshenglu restrictivedermopathyreportoftwosiblings AT shuchuanwu restrictivedermopathyreportoftwosiblings AT jiawoeihou restrictivedermopathyreportoftwosiblings AT chihpingchu restrictivedermopathyreportoftwosiblings AT lolintseng restrictivedermopathyreportoftwosiblings AT hungchilue restrictivedermopathyreportoftwosiblings |