A rare case of COL71A1 heterozygous mutations resulting in neonatal dystrophic epidermolysis bullosa
Epidermolysis bullosa is a group of rare hereditary vesicular skin diseases associated with mutations of COL7A1. At present, there is no effective treatment. Approximately forty percent of patients die within the first year of life, and the quality of life of survivors is seriously compromised. Pre-...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
IMR Press
2020-06-01
|
| Series: | Clinical and Experimental Obstetrics & Gynecology |
| Subjects: | |
| Online Access: | https://www.imrpress.com/journal/CEOG/47/3/10.31083/j.ceog.2020.03.5336 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850170996958429184 |
|---|---|
| author | Q. Yuan D. Hu T.T. Zhu Q.W. Zhang Y.H. Gong |
| author_facet | Q. Yuan D. Hu T.T. Zhu Q.W. Zhang Y.H. Gong |
| author_sort | Q. Yuan |
| collection | DOAJ |
| description | Epidermolysis bullosa is a group of rare hereditary vesicular skin diseases associated with mutations of COL7A1. At present, there is no effective treatment. Approximately forty percent of patients die within the first year of life, and the quality of life of survivors is seriously compromised. Pre-pregnancy genetic counseling and prenatal diagnosis is of great clinical significance for these patients and families. We describe a rare case of dystrophic epidermolysis bullosa secondary to heterozygous mutations in COL7A1. |
| format | Article |
| id | doaj-art-a4460bbba4b14103abdf437f152ac5ee |
| institution | OA Journals |
| issn | 0390-6663 |
| language | English |
| publishDate | 2020-06-01 |
| publisher | IMR Press |
| record_format | Article |
| series | Clinical and Experimental Obstetrics & Gynecology |
| spelling | doaj-art-a4460bbba4b14103abdf437f152ac5ee2025-08-20T02:20:22ZengIMR PressClinical and Experimental Obstetrics & Gynecology0390-66632020-06-0147344244510.31083/j.ceog.2020.03.5336S0390-6663(20)00286-9A rare case of COL71A1 heterozygous mutations resulting in neonatal dystrophic epidermolysis bullosaQ. Yuan0D. Hu1T.T. Zhu2Q.W. Zhang3Y.H. Gong4Department of Obstetrics and Gynaecology, Pujiang People's Hospital, Pujiang, P.R. ChinaDepartment of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University) of Ministry of Education, Chengdu, P.R. ChinaDepartment of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University) of Ministry of Education, Chengdu, P.R. ChinaDepartment of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University) of Ministry of Education, Chengdu, P.R. ChinaDepartment of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University) of Ministry of Education, Chengdu, P.R. ChinaEpidermolysis bullosa is a group of rare hereditary vesicular skin diseases associated with mutations of COL7A1. At present, there is no effective treatment. Approximately forty percent of patients die within the first year of life, and the quality of life of survivors is seriously compromised. Pre-pregnancy genetic counseling and prenatal diagnosis is of great clinical significance for these patients and families. We describe a rare case of dystrophic epidermolysis bullosa secondary to heterozygous mutations in COL7A1.https://www.imrpress.com/journal/CEOG/47/3/10.31083/j.ceog.2020.03.5336epidermolysis bullosahereditaryno effective treatmentcol71a1 |
| spellingShingle | Q. Yuan D. Hu T.T. Zhu Q.W. Zhang Y.H. Gong A rare case of COL71A1 heterozygous mutations resulting in neonatal dystrophic epidermolysis bullosa Clinical and Experimental Obstetrics & Gynecology epidermolysis bullosa hereditary no effective treatment col71a1 |
| title | A rare case of COL71A1 heterozygous mutations resulting in neonatal dystrophic epidermolysis bullosa |
| title_full | A rare case of COL71A1 heterozygous mutations resulting in neonatal dystrophic epidermolysis bullosa |
| title_fullStr | A rare case of COL71A1 heterozygous mutations resulting in neonatal dystrophic epidermolysis bullosa |
| title_full_unstemmed | A rare case of COL71A1 heterozygous mutations resulting in neonatal dystrophic epidermolysis bullosa |
| title_short | A rare case of COL71A1 heterozygous mutations resulting in neonatal dystrophic epidermolysis bullosa |
| title_sort | rare case of col71a1 heterozygous mutations resulting in neonatal dystrophic epidermolysis bullosa |
| topic | epidermolysis bullosa hereditary no effective treatment col71a1 |
| url | https://www.imrpress.com/journal/CEOG/47/3/10.31083/j.ceog.2020.03.5336 |
| work_keys_str_mv | AT qyuan ararecaseofcol71a1heterozygousmutationsresultinginneonataldystrophicepidermolysisbullosa AT dhu ararecaseofcol71a1heterozygousmutationsresultinginneonataldystrophicepidermolysisbullosa AT ttzhu ararecaseofcol71a1heterozygousmutationsresultinginneonataldystrophicepidermolysisbullosa AT qwzhang ararecaseofcol71a1heterozygousmutationsresultinginneonataldystrophicepidermolysisbullosa AT yhgong ararecaseofcol71a1heterozygousmutationsresultinginneonataldystrophicepidermolysisbullosa AT qyuan rarecaseofcol71a1heterozygousmutationsresultinginneonataldystrophicepidermolysisbullosa AT dhu rarecaseofcol71a1heterozygousmutationsresultinginneonataldystrophicepidermolysisbullosa AT ttzhu rarecaseofcol71a1heterozygousmutationsresultinginneonataldystrophicepidermolysisbullosa AT qwzhang rarecaseofcol71a1heterozygousmutationsresultinginneonataldystrophicepidermolysisbullosa AT yhgong rarecaseofcol71a1heterozygousmutationsresultinginneonataldystrophicepidermolysisbullosa |