Maldonado CG, Durán KC, Orozco CL, Palacios LC, Saéz OMM, García RMT

Language: Spanish
References: 13
Page: 289-298
PDF size: 273.61 Kb.

ABSTRACT

Epidermolysis bullosa (EB) is the term used to define a group of genetic diseases characterized by mechanic fragility of the skin. It is caused by a variety of mutations in several genes that codify for dermal-epidermal junction proteins, which leads to formation of blisters and skin and mucosal erosions, as well as multiple other systemic alterations. There are 3 main groups depending on the genetic mutation that leads to an altered structural protein at different levels of the dermal-epidermal junction, each with a particular phenotype, clinical manifestations and complications: EB simplex (EBS), junctional EB (JEB) and dystrophic (DEB). In this article we comprehensively review the most recent clinical, molecular and genetic concepts used for classification and diagnosis of EB.

REFERENCES

1. Fine J, Eady RA, Bauer EA 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(6): 931-50.

2. El Hachem M, Zambruno G, Bourdon-Lanoy E et al. Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa, Orphanet J Rare Dis 2014; 9(76): 1-20I.

3. Baquero Fernández C, Herrera Ceballos E, López Gutiérrez JC et al. Guía de atención clínica integral de la epidermólisis bullosa hereditaria, 1ª ed., Madrid, Ministerio de Sanidad y Consumo, 2008.

4. Ahmad RC y Bruckner A. A survey of epidermolysis bullosa care in the United States and Canada, Pediatr Dermatol 2014; 31(2): 169-75.

5. Mancuso GK, Kopelan B, Azizkhan R y Lucky A. Junctional epidermolysis bullosa incidence and survival: 5-year experience of the Dystrophic Epidermolysis Bullosa Research Association of America (Debra) Nurse Educator, 2007 to 2011, Pediatr Dermatol 2014; 31(2): 159-62.

6. Yuen Y, Lemmink H, Van Dijk Bos KK et al. Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands, Br J Dermatol 2011; 165(6): 1314-1322.

7. Van den Akker P, Jonkman M, Rengaw T et al. The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their col7a1 mutations, Hum Mutat 2011; 32(10): 1100-7.

8. Liy-Wong C, Cepeda R y Salas JC. Epidermolysis bullosa care in Mexico, Dermatologic Clinics 2010; 28(2): 393-4.

9. Fine J-D, Bruckner-Tuderman L, Eady Robin F et al. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification, J Am Ac Dematol 2014; 70(6): 1103-26.

10. Intong LR y Murrell DF. Inherited epidermolysis bullosa: new diagnostic criteria and classification, Clinics in Dermatology 2012; 30(2): 70-7.

11. Cepeda-Valdés R, Pohla-Gubo G, Borbolla-Escoboza JR et al. Immunofluorescence mapping for diagnosis of congenital epidermolysis bullosa”, Actas Dermosiliogr 2010; 101(8): 973-82.

12. Eady R y Dopping P. Transmission electron microscopy for the diagnosis of epidermolysisi bullosa, Dermatologic Clinics 2010; 28(2): 211-22.

13. Salas-Alanís JC, Cepeda-Valdés R, Mellerio JE et al. Progress in epidermolysis bullosa: summary of a workshop in cilad-2010, Int J Dermatol 2012; 51(6): 682-7.