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A rare case of COL71A1 heterozygous mutations resulting in neonatal dystrophic epidermolysis bullosa
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1
Department 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. China
2
Department of Obstetrics and Gynaecology, Pujiang People's Hospital, Pujiang, P.R. China
*Correspondence: yunhuigong@126.com (YUNHUI GONG)
†Contributed equally.
†Contributed equally.
Clin. Exp. Obstet. Gynecol. 2020, 47(3), 442–445;
https://doi.org/10.31083/j.ceog.2020.03.5336
Submitted: 26 August 2019 | Accepted: 31 October 2019 | Published: 15 June 2020
Copyright: © 2020 Yuan et al. Published by IMR press.
This is an open access article under the CC BY 4.0 license
https://creativecommons.org/licenses/by/4.0/.
Abstract
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.
Keywords
Epidermolysis bullosa
Hereditary
No effective treatment
COL71A1
Figures
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