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ISSN 1727-897X (Electronic)

2016, Number 6

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Medisur 2016; 14 (6)

Epydermolisis bullosa. Case presentation

Revuelta MLA, Ruíz RDR, Guerra VD, Bravo PE

Language: Spanish
References: 10
Page: 789-795
PDF size: 186.61 Kb.


ABSTRACT

Epydermolisis bullosa is part of a group of non-infectious and non-contagious inherited diseases which courses with different presentations from mild to severe forms. It is characterized by skin and mucosa affections due to a disturbance of the proteins of the epidermodermic joins which alter cohesion in both skin layers. As a consequence blisters and vesicles are formed after minimum traumas of frictions, with the variable incidence to other organs. Due to the scarce appearance of the disease it has been decided to present the case a four years old girl with the diagnosis of epydermolisis bullosa.


REFERENCES

  1. Galán Gutiérrez JC, Martínez Suárez MA, Tobera Noval B, Avello Taboada R. Epidermólisis bullosa de Herlitz en el paciente pediátrico: implicaciones anestésicas. Rev Colomb Anestesiol [revista en Internet]. 2014 [citado 15 Ago 2015];42(2):[aprox. 7p]. Disponible en: http://www.scielo.org.co/scielo.php?script=sci_arttext&pid=S0120-33472014000200012&lng=en

  2. Tolar J, McGrath JA, Xia L, Riddle MJ, Lees CJ, Eide C, et al. Patient-specific naturally gene-reverted induced pluripotent stem cells in recessive dystrophic epidermolysis bullosa. J Invest Dermatol. 2013;134(5):1246-54

  3. Kim M, Murrell DF. Update on the pathogenesis of sguamous cell carcinoma development in recessive dystrophic epidermolysisi bullosa. Eur J Dermatol. 2015;25 Suppl 1:30-2

  4. Cogan J, Weinstein J, Wang X, Hou Y, Martin S, South AP, et al. Aminoglycosides Restore Full-length Type VII Collagen by Overcoming Premature Termination Codons: Therapeutic Implications for Dystrophic Epidermolysis Bullosa. Mol Ther. 2014;22(10):1741-52

  5. Cogan J, Garcia M, Brander R, Has C, Meijer R, Jose Escámez M, et al. Mechanisms of Natural Gene Therapy in Dystrophic Epidermolysis Bullosa. J Invest Dermatol. 2014;134(8):2097-104

  6. Fine J-D, Bruckner-Tuderman L, Eady RAJ, Bauer EA, Bauer JW, Has C, et al. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol. 2014;70(6):1103-26

  7. Arin MJ, Grimberg G, Schumann H, De Almeida H, Chang YR, Tadini G, et al. Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype. Br J Dermatol. 2010;162(6):1365-9

  8. Swartling C, Karlqvist M, Hymnelius K, Weis J, Vahlquist A. Botulinum toxin in the treatment of sweat-worsened foot problems in patients with epidermolysis bullosa simplex and pachyonychia congenita. Br J Dermatol. 2010;163(5):1072-6

  9. Fröhlich S, O´Sullivan E. Airway management in adult patients with epidermolysis bullosa dystrophica: a case series. Anaesthesia. 2011;66(9):842-3

  10. Goldschneider K, Lucky AW, Mellerio JE, Palisson F, del Carmen Viñuela Miranda M, Azizkhan RG. Perioperative care of patients with epidermolysis bullosa: proceedings of the 5th international symposium on epidermolysis bullosa, Santiago, Chile, December 4-6, 2008. Paediatr Anaesth. 2010;20(9):797-804




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