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
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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://bakhtiniada.ru/0042-4609/article/view/116814
- DOI: https://doi.org/10.25208/0042-4609-2016-92-5-44-50
- ID: 116814
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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”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”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”俄罗斯联邦
A. Ryabov
Kirov Children’s Clinical Consultative and Diagnostic Centre, the city of Kirov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.
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