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Smolyannikova V.A.

I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia

Kubanova A.A.

State Research Center for Dermatovenereology and Cosmetology, Ministry of Health of Russia, Moscow

Al'banova V.I.

FPPOV Pervogo MGMU im. I.M. Sechenova

Nefedova M.A.

State Research Center for Dermatovenereology and Cosmetology, Ministry of Health of Russia, Moscow

Karamova A.É.

Russian State Medical University, Moscow

Current approaches to the morphologic diagnosis of different types of congenital epidermolysis bullosa

Authors:

Smolyannikova V.A., Kubanova A.A., Al'banova V.I., Nefedova M.A., Karamova A.É.

More about the authors

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To cite this article:

Smolyannikova VA, Kubanova AA, Al'banova VI, Nefedova MA, Karamova AÉ. Current approaches to the morphologic diagnosis of different types of congenital epidermolysis bullosa. Russian Journal of Archive of Pathology. 2016;78(6):9‑16. (In Russ.)
https://doi.org/10.17116/patol20167869-16

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References:

  1. Kubanov A, Al'banova V, Chikin V, Epishev R. Modern methods of the treatment of hereditary epidermolysis bullosa. Vestnik dermatologii i venerologii. 2014;(6):47-56. (In Russ.)
  2. Fine JD, Eady RA, Bauer EA, Bauer JW, Bruckner-Tuderman L, Heagerty A et al. The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol. 2008;58:931-950. doi:10.1016/j.jaad.2008.02.004
  3. Shinkuma S, McMillan JR, Shimizu H. Ultrastructure and molecular pathogenesis of epidermolysis bullosa. Clin Dermatol. 2011;29(4):412-419. doi:10.1016/j.clindermatol.2011.01.010
  4. Herz C, Aumailley M, Schulte C, Schlotzer-Schrehardt U, Bruckner-Tuderman L, Has C. Kindlin-1 is a phosphoprotein involved in regulation of polarity, proliferation, and motility of epidermal keratinocytes. J Biol Chem. 2006;281(47):36082-36090. doi:10.1074/jbc.M606259200
  5. Natsuga K. Epidermolysis bullosa simplex. In: Oiso DN, ed. Current genetics in dermatology. Croatia: InTech; 2013:158.
  6. Boeira VL, Souza ES. Inherited epidermolysis bullosa: clinical and therapeutic aspects. An Bras Dermatol. 2013;88(2):185-198. doi:10.1590/S0365-05962013000200001
  7. Elluru RG, Contreras JM, Albert DM. Management of manifestations of epidermolysis bullosa. Curr Opin Otolaryngol Head Neck Surg. 2013;21(6):588-593. doi:10.1097/MOO.0000000000000004
  8. Fine JD. Inherited epidermolysis bullosa. Orphanet J Rare Dis. 2010;5:12. doi:10.1186/1750-1172-5-12
  9. Al'banova V, Chikin V, Epishev R. Revisited diagnostics of hereditary epidermolysis bullosa. Vestnik dermatologii i venerologii. 2014;(3):53-59. (In Russ.)
  10. Kubanov A, Katunina O, Michenko A, Abramova T. Studying оf the expression of PERP protein in the skin of patients with pemphigus. Vestnik dermatologii i venerologii. 2013;(6):59-65. (In Russ.)
  11. Eady R, Dopping-Hepenstal P. Transmission electron microscopy for the diagnosis of epidermolysis bullosa. Dermatol Clin. 2010;28(2):211-222,vii. doi:10.1016/j.det.2009.12.001
  12. Shipman A, Liu L, Lai-Cheong J, McGrath J, Heagerty A. Somatic forward (nonrevertant) mosaicism in recessive dystrophic epidermolysis bullosa. JAMA Dermatol. 2014;150(9):1025-1027. doi:10.1001/jamadermatol.2014.281
  13. Almaani N, Nagy N, Liu L, Dopping-Hepenstal PJ, Lai-Cheong JE, Clements SE et al. Revertant mosaicism in recessive dystrophic epidermolysis bullosa. J Invest Dermatol. 2010;130(7):1937-1940. doi:10.1038/jid.2010.64
  14. Pasmooij A, Pas H, Bolling M, Jonkman M. Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3. J Clin Investig. 2007;117(5):1240-1248. doi:10.1172/JCI30465
  15. Nagao-Watanabe M, Fukao T, Matsui E, Kaneko H, Inoue R, Kawamoto N et al. Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case. Clin Genet. 2004;66(3):236-238. doi:10.1111/j.1399-0004.2004.00292.x
  16. Limat A, Breitkreutz D, Thiekoetter G, Klein C, Braathen L, Hunziker T, Fusenig N. Formation of a regular neo-epidermis by cultured human outer root sheath cells grafted on nude mice. Transplantation. 1995;59(7):1032-1038.
  17. Limat A, Mauri D, Hunziker T. Successful treatment of chronic leg ulcers with epidermal equivalents generated from cultured autologous outer root sheath cells. J Invest Dermatol. 1996;107(1):128-125. doi:10.1111/1523-1747.ep12298415

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