2021, Number 1
<< Back Next >>
Finlay 2021; 11 (1)
Congenital bullous epidermolysis. Clinical update
Vázquez NMA, Santiesteban ARE, Ferrer MYI
Language: Spanish
References: 16
Page: 74-79
PDF size: 113.28 Kb.
ABSTRACT
Bullous epidermolysis is an inherited, chronic, incurable and low prevalence disease. It is characterized by the appearance of blisters after minimal trauma, predominantly cutaneous and difficult to manage. It is caused by mutations in various genes that code for dermoepidermal junction proteins, which leads to the formation of blisters and erosions, in addition to multiple other systemic alterations. There are three large groups depending on the genetic mutation. For its diagnosis, a skin biopsy is performed. There is no effective treatment, the most commonly used treatments being symptomatic and palliative. Congenital bullous epidermolysis is a rarely observed disease, for this reason it is a medical challenge to go from syndromic to specific diagnosis. In this sense, the objective of this work is to describe the main characteristics of bullous epidermolysis. A total of 15 bibliographies were reviewed.
REFERENCES
Bardhan A, Bruckner L, Chapple LC, Fine JD, Harper N, Has C, et al. Epidermolysis bullosa. Nat Rev Dis Primers. 2020;6(1):78.
Hachem ME, Zambruno G, Bourdon E, Ciasulli A, Buisson C, Rabia SH, et al. Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa. Orphanet J Rare Dis. 2014;9(1):76.
Ahmad RC, Bruckner A. A survey of epidermolysis bullosa care in the United States and Canada. Pediatr Dermatol. 2014;31(2):169-75.
Maldonado CG, Durán KC, Orozco CL, Palacios LC, Sáez OM, García RM. Epidermólisis ampollosa: nuevos conceptos clínicos y moleculares para clasificación y diagnóstico. DCMQ. 2016;14(4):289-98.
Laimer M, Bauer J, Murrell D. Epidermolysis bullosa: Epidemiology, pathogenesis, classification, and clinical features[Internet]. México:Biblioteca Digital UNAM;2015[citado 11 Feb 2019]. Disponible en: Disponible en: https://www.uptodate.com/contents/epidemiology-pathogenesis-classification-and-clinical-features-of-epidermolysis-bullosa.
Sánchez LR, García PP, Viego ME. Epidermólisis bullosa congénita (piel de cristal). Acta Médica Centro[Internet]. 2012[citado 23 Nov 2019];6(4):[aprox. 10p.]. Disponible en: https://www.revactamedicacentro.sld.cu/index.php/amc/article/view/242.
Rosario C, Smith Y, González AL, González A, Arcis A, Fernández Y. Epidermólisis bullosa: piel de mariposa. A propósito de un caso. Rev Méd Electrón[Internet]. 2017[citado 19 Ene 2020];39(3)[aprox. 10p.]. Disponible en: https://www.revmedicaelectronica.sld.cu/index.php/rme/article/view/1619/3452.
Endo Y, Tanioka L, Tanizaki H, Mori M, Kawabata H, Miyachi Y. Bullous Variant of Sweet's Syndrome after Herpes Zoster Virus Infection. Case Rep Dermatol. 2011;3(3):259-62.
Fine JD, Bruckner L, Eady RA, 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.
Ho AM, Tsui CS. Epidermolysis bullosa in a newborn. Anesthesiology. 2012;116(4):925.
Stellingsma C, Dijkstra PU, Dijkstra J, Duipmans JC, Jonkman MF, Dekker R. Restrictions in oral functions caused by oral manifestations of epidermolysis bullosas. Eur J Dermatol. 2011;21(3):405-9.
Clavería RA, Rodríguez K, Peña M. Características clínicas, genéticas y epidemiológicas de la epidermólisis bullosa y su repercusión en la cavidad bucal. MEDISAN[Internet]. 2015[citado 16 Nov 2019];19(8):[aprox. 10p.]. Disponible en: https://scielo.sld.cu/pdf/san/v19n8/san10198.pdf.
Orphanet. Epidermólisis ampollosa hereditaria[Internet]. España:Enciclopedia Orphanet de la Discapacidad;2018[citado 29 Dic 2019]. Disponible en: Disponible en: https://www.orpha.net/data/patho/Han/Int/es/EpidermolisisAmpollosaHereditaria_Es_es_HAN_ORPHA793 61.pdf .
Tabares F, Díaz C, Más V, Monteghirfo R. Epidermólisis ampollosa congénita: a propósito de un caso. Arch Med Int[Internet]. 2015[citado 13 Mar 2020];37(3):[aprox. 5p.]. Disponible en: https://www.scielo.edu.uy/scielo.php?script=sci_arttext&pid=S1688-423X2015000300007.
Vanden MJ, Tolar J. Advances in understanding and treating dystrophic epidermolysis bullosa. F1000Prime Rep. 2014;6(6):35.
Wenzel D, Bayerl J, Nyström A, Bruckner L, Meixner A, Penninger JM. Genetically corrected iPSCs as cell therapy for recessive dystrophic epidermolysis bullosa. Sci Transl Med. 2014;6(264):264-5.