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Lamellar congenital ichthyosis in practice of dermatologists
- Authors: Koshkin S.V.1, Chermnykh T.V.1, Evseeva A.L.1, Ryabova V.V.1, Ryabov A.N.2
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Affiliations:
- 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
- Issue: Vol 92, No 5 (2016)
- Pages: 44-50
- Section: CLINICAL CASE REPORTS
- URL: https://vestnikdv.ru/jour/article/view/269
- DOI: https://doi.org/10.25208/0042-4609-2016-92-5-44-50
- ID: 269
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About the authors
S. V. Koshkin
State Budget Educational Institution of Higher Professional Education of the Health Care Ministry of the Russian Federation “Kirov State Medical Academy”
Author for correspondence.
Email: koshkin_sergei@mail.ru
Russian Federation
T. V. 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
Russian Federation
A. L. 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
Russian Federation
V. 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
Russian Federation
A. N. Ryabov
Kirov Children’s Clinical Consultative and Diagnostic Centre, the city of Kirov
Email: noemail@neicon.ru
Russian Federation
References
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- 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.
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- 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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