Lamellar congenital ichthyosis in practice of dermatologists
- 作者: Koshkin S.V.1, Chermnykh T.V.1, Evseeva A.L.1, Ryabova V.V.1, Ryabov A.N.2
-
隶属关系:
- State Budget Educational Institution of Higher Professional Education of the Health Care Ministry of the Russian Federation “Kirov State Medical Academy”
- Kirov Children’s Clinical Consultative and Diagnostic Centre, the city of Kirov
- 期: 卷 92, 编号 5 (2016)
- 页面: 44-50
- 栏目: CLINICAL CASE REPORTS
- URL: https://ogarev-online.ru/0042-4609/article/view/116814
- DOI: https://doi.org/10.25208/0042-4609-2016-92-5-44-50
- ID: 116814
如何引用文章
全文:
详细
作者简介
S. Koshkin
State Budget Educational Institution of Higher Professional Education of the Health Care Ministry of the Russian Federation “Kirov State Medical Academy”
编辑信件的主要联系方式.
Email: koshkin_sergei@mail.ru
俄罗斯联邦
T. Chermnykh
State Budget Educational Institution of Higher Professional Education of the Health Care Ministry of the Russian Federation “Kirov State Medical Academy”
Email: noemail@neicon.ru
俄罗斯联邦
A. Evseeva
State Budget Educational Institution of Higher Professional Education of the Health Care Ministry of the Russian Federation “Kirov State Medical Academy”
Email: noemail@neicon.ru
俄罗斯联邦
V. Ryabova
State Budget Educational Institution of Higher Professional Education of the Health Care Ministry of the Russian Federation “Kirov State Medical Academy”
Email: noemail@neicon.ru
俄罗斯联邦
A. Ryabov
Kirov Children’s Clinical Consultative and Diagnostic Centre, the city of Kirov
Email: noemail@neicon.ru
俄罗斯联邦
参考
- Vaigundan D., Kalmankar Neha V., Krishnappa J. et al. A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient. Biomed Res Int 2014; 2014: 706827.
- Craiglow B.G. Ichthyosis in the newborn. Semin Perinatol 2013 Feb; 37 (1): 26-31.
- DiGlovanna J.J., Robinson-Bostom L. Ichthyosis: etiology, diagnosis, and management. Am J Dermatol 2003; 4 (2): 81-95.
- Huber M., Retter I., Bernasconi K. et al. Mutations of keratynocyte transglutaminase in lamellar ichthyosis. Sience 1995; (267): 525-528.
- Russel L.J., DiGiovanna J.J., Rogers G.R. et al. Mutations in the gene for transglutaminase 1 in autosomal-recessive lamellar ichthyosis. Nature Genet 1995; (9): 279-283.
- Kelsell D.P., Norgett E.E., Unsworth H. et al. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet 2005; 76 (5): 794-803.
- Akiyama M, Sugiyama-Nakagiri Y, Sakai K, McMillian JR et al. Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. J Clin Invest 2005; (115): 1777-1784.
- Serdyukova E.A., Rodin A.Yu. Two clinical cases of congenital ichthyosis. Ros Zhurn Dermatol Venerol bolezney 2011;(5): 50-52.
- Orlovskaya I.V., Ryumina I.I., Perepyolkina A.E. Congenital ichthyosis. Ros Vestn Perinatol Pediat 2009; (6): 22-25.
- Belikov A.N., Albanova V.I., Komleva L.F., Golchenko V.A. Arlequin ichtyosis (harlequin fetus): case description. Vestn Dermatol Venerol 2012; (3): 80-85.
- European Handbook of Dermatological Treatments edited by A.D. Katsambas, T.M. Lotti. Translation from the English language, Second edition.
- Aufenvenne K., Larcher F., Hausser I., Duarte B., Oji V., Nikolenko H.,Del Rio M., Dathe M., Traupe H. Topical enzyme-replacement therapy restores TGM1 activity and corrects architecture of TGM1-deficient skin grafts. Am J Hum Genet 2013 Oct 3; 93 (4): 620-30.
补充文件
