Epidermólisis Bullosa: desafíos médicos, físicos y emocionales

Rubinsten  Hernández Barbosa; Kareen Adriana  Peña Martínez; Angie Tatiana  Fontecha Puerto

doi:10.22490/24629448.8200

Vol. 22 No. 42 (2024): Primer número 2024

Published

2024-06-22

PDF (Spanish)

Metrics

Metrics Loading ...

Epidermolysis Bullosa: medical, physical and emotional challenges

DOI: https://doi.org/10.22490/24629448.8200

Section

Article (before OJS)

Rubinsten Hernández Barbosa https://orcid.org/0000-0002-5595-5344

Kareen Adriana Peña Martínez https://orcid.org/0009-0000-4254-3618

Angie Tatiana Fontecha Puerto https://orcid.org/0009-0009-0039-7347

Introduction: Epidermolysis Bullosa, also known as “Butterfly Skin”, is a “rare and or- phan” autoimmune disease that affects the genetic structure of the epidermis, causing the formation of blisters and skin retractions. People who suffer from it, most of the time, suffer from rejection and isolation. Objective: Design an information booklet on Epi- dermolysis Bullosa for the basic education educational community of the department of Boyacá. Materials and methods: Qualitative approach study, descriptive, interpretive and analytical in nature that followed the parameters of the PRISMA (2020) systematic reviews. It was developed in 3 stages. 1. Bibliographic search in open access databases such as Scielo, Scopus, Dialnet and Redalyc, among others, with search equations. 2. Systemati- zation of more than 70 articles. 3. Selection of information to fulfill the objective. Results: Research seeks ways to relieve symptoms and prevent complications. For its treatment, a multidisciplinary approach is necessary that includes dermatologists, psychologists, phy- siotherapists and nutritionists, among other health professionals, as well as education, to address the physical and emotional challenges that patients face, especially in the early years. Conclusions: The challenges focus on early diagnosis, a fundamental aspect for the initiation of treatment; and health strategies aimed at the care and control of the disease. It is necessary for school communities to inform themselves, not to stigmatize and isolate those who suffer from it; From the psychological aspects, support for both those affected and their families is essential.

blister, epidermis, epidermolysis bullosa, butterfly skin, ulcers.

Vázquez, M. A., Santiesteban, R. E., & Ferrer, Y. I. (2021). Epidermólisis ampollosa o bullosa congénita. Actualización clínica. Revista Finlay, 11(1). http://scielo.sld.cu/scielo. php?script=sci_arttext&pid=S2221-24342021000100074

Junta de Andalucía. (2009). Guía de práctica clínica para el cuidado de la piel y mucosas en personas con epidermólisis bullosa. En Servicio Andaluz de Salud. https://portal. guiasalud.es/wp-content/uploads/2018/12/GPC_450_ EB.pdf

Centro de Información Genética y de Enfermedades Raras. (2019). Epidermólisis ampollosa. Centro Nacional para el Avance de las Ciencias Traslacionales. https://rarediseases. info.nih.gov/espanol/12000/epidermolisis-ampollosa

Academia Española de Dermatología y Venereología. (2021). Guía para pacientes con epidermólisis bullosa. Academia Española de Dermatología y Venereología. https:// aedv.es/wp-content/uploads/2021/02/Gui%CC%81a- epidermo%CC%81lisis- bullosa-VF.pdf

Wakap, S., Lambert, D., Olry, A., Rodwell, C., Gueydan, C., Lanneau, V., Murphy, D., Cam, Y., Rath, A. (2020). Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet 28, 165-173. https://doi.org/10.1038/s41431-019-0508-0

Bardín, L. (2002). Análisis de contenido. Madrid: Akal.

Hernández-Barbosa, R (2017). El contexto cultural en las prácticas educativas de profesores de ciencias del sector rural: perspectivas para el modelo de formación por cambio didáctico. [Tesis Doctoral]. Universidad Distrital francisco José de Caldas.

Ruiz, J. (2009). metodología de la investigación cualitativa. [4 ed.]. Bilbao:

Estrada, J., Caro, I., Tibaduiza, Y., Sánchez, Z., (2022). Epidermólisis bullosa: presentación de un caso. Rev. Med vol.29 no.2 Bogotá. https://doi.org/10.18359/rmed.5612

DEBRA, (2019). Hace una década toma el reto en atención a Pacientes con Piel de Mariposa. https://debracolombia.org/ debra-colombia-hace-una-decada-toma-el-reto-en-atencion- pacientes-con-piel-de-mariposa-felicidades/

Araiza, M. I., Gris, J., Piña, M. J., Cadena, J. F., Teja, E., Varón, D., & García, M. T. (2020). Epidermolisis ampollosa en niños: un estudio retrospectivo en un hospital de referencia. Revista Médica Del Instituto Mexicano Del Seguro Social, 58(5). https://www.redalyc.org/journal/4577/457768466007/ html/

Diniz, AB; Vieira, L. Epidermólisis ampollosa (1995). Enfermería. Rev. Tec. Enferm , v.8, n.94, p.16-20. https:// interface.org.br/wp-content/uploads/2015/01/v-9-n-16-set- 2004-fev-2005.pdf

DEBRA, (2020). Introducción a la epidermólisis bullosa. https://www.pieldemariposa.es/introduccion-a-la- epidermolisis-bullosa/

Silva, K., Fernandes L., Oliveira, M., Braga, T., Silva, K. (2020). Desafíos de cuidadores familiares de crianças e adolescentes com Epidermólise Bolhosa. https://pesquisa. bvsalud.org/portal/resource/pt/biblio-1121475

DEBRA, (2023). Piel de mariposa, una enfermedad rara que requiere abordaje integral. https://debracolombia.org/piel- de-mariposa-una-enfermedad-rara-que-requiere-abordaje- integral/#_ftnref2

Laimer, M., Prodinger, C., & Bauer, J. (2015). Hereditary epidermolysis bullosa. Journal Der Deutschen Dermatologischen Gesellschaft, 13(11), 1125–1133. https:// doi.org/10.1111/ddg.12774

Hernández, A., & Torrelo, A. (2010). Epidermólisis ampollosas hereditarias: del diagnóstico a la realidad. Actas Dermo-Sifiliográficas, 101(6), 495–505. https://doi. org/10.1016/j.ad.2010.03.002

Gonçalves, N., Balestra, C., Monique D., Brosso, L., Levada, A., Cavicchioli, A. (2022). School inclusion of children and adolescents with epidermolysis bullosa: The mothers’ perspective. DA ESCOLA DE ENFERMAGEM DA USP. Brasil. https://doi.org/10.1590/1980-220X-REEUSP-2022- 0271en

Fine, J.D., Bruckner, L., Eady, R., Bauer, E., Bauer, J., Has, C., Heagerty, A., Hintner, H., Hovnanian, A., Jonkman, M.F., Leigh, I., Marinkovich, M.P., Martinez, A.E., McGrath, J.A., Mellerio, J.E., Moss, C., Murrell, D.F., Shimizu, H., Uitto, J., Woodley, D., Zambruno, G. (2014). Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification.https://www.scopus.com/ record/display.uri?eid=2-s2.0-84901242657&origin=inward &txGid=63263741080f8a63c5a086d76f5f2b4b

Maseda, R., Quintana, L., Pérez, I., Jiménez, M., Escámez, M., Lucas, R. (2021). Epidermólisis bullosa en España: Estudio observacional de una cohorte de pacientes atendidos en un centro de referencia nacional. https://doi. org/10.1016/j.ad.2021.04.006

Laimer M, Bauer J, Murrell DF. (2017). Epidemiology, pathogenesis, classification and clinical features of epidermolysis bullosa. https://www.uptodate.com/ contents/epidermolysis-bullosa-epidemiology-pathogenesis- classification-and-clinical-features

Yamakawa, V., Oliveira, B., Santos, M., Follador, I., Sales, E., Dantas, P., Pedreira, V. (2013). Inherited epidermolysis bullosa: clinical and therapeutic aspects. https://doi. org/10.1590/S0365-05962013000200001

Sawamura D, Nakano H, Matsuzaki Y. (2010). Overview of epidermolysis bullosa. J Dermatol 37:214-219. https://doi. org/10.1111/j.1346-8138.2009.00800.x

Mitsuhashi, Y., Hashimoto, I. (2003). Anomalías genéticas y clasificación clínica de la epidermólisis ampollosa. Arch Dermatol R. 295:S29-33.

MedlinePlus, (2022). Ampollas en EB distrófica [Fotografía]. https://medlineplus.gov/spanish/ency/esp_ imagepages/2405.htm

M. Aumailley, C. Has, L. Tunggal, L. Bruckner-Tuderman. (2006). Molecular basis of inherited skin-blistering disorders, and therapeutic implications. Expert Rev Mol Med, 8 pp. 1-21. http://dx.doi.org/10.1017/S1462399406000196

Siañez, C., Pezoa, R., Salas, J. (2009). EPIDERMÓLISIS ampollosa congénita: revisión del tema. https://www. actasdermo.org/es-epidermolisis-ampollosa-congenita- revision-del-articulo-S0001731009729126

Torres, R., Palomo, P., Torres, G., Lipa, R. (2017). Rev. perú. med. exp. salud publica vol.34 no.2 Lima. http://dx.doi. org/10.17843/rpmesp.2017.342.2484

García, M., Becerril, J., Dabdoud, A. (2019). Epidermólisis ampollosa: análisis de costo de la atención médica en México. Med. interna Méx. vol.35 no.1 Ciudad de México. https:// doi.org/10.24245/mim.v35i1.2166

Haynes L. (2010). Nutrition for children with epidermolysis bullosa. Dermatol Clin. 28(2):289301. https://doi. org/10.1016/j.det.2010.01.010

Ludwig, R. J. (2013). Clinical Presentation, Pathogenesis, Diagnosis, and Treatment of Epidermolysis Bullosa Acquisita. ISRN Dermatology (Print), 2013, 1–25. https:// doi.org/10.1155/2013/812029

Intong,L.R.,&Murrell,D.F.(2012).Inheritedepidermolysis bullosa: New diagnostic criteria and classification. Clinics in Dermatology, 30(1), 70–77. https://doi.org/10.1016/j. clindermatol.2011.03.012

Has, C., & He, Y. (2016). Research Techniques Made Simple: Immunofluorescence Antigen Mapping in Epidermolysis Bullosa. Journal of Investigative Dermatology, 136(7), e65– e71. https://doi.org/10.1016/j.jid.2016.05.093

Vorobyev, A., Ludwig, R. J., & Schmidt, E. (2016). Clinical features and diagnosis of epidermolysis bullosa acquisita. Expert Review of Clinical Immunology, 13(2), 157–169. https://doi.org/10.1080/1744666x.2016.1221343

Fine, J. D., Johnson, L., Weiner, M., & Suchindran, C. (2008). Gastrointestinal Complications of Inherited Epidermolysis Bullosa: Cumulative Experience of the National Epidermolysis Bullosa Registry. Journal of Pediatric Gastroenterology and Nutrition, 46(2), 147–158. https://doi. org/10.1097/mpg.0b013e31812f5667

Pohla, G., & Hintner, H. (2011). Direct and Indirect Immunofluorescence for the Diagnosis of Bullous Autoimmune Diseases. Dermatologic Clinics, 29(3), 365– 372. https://doi.org/10.1016/j.det.2011.03.001

Shinkuma, S. (2015). Dystrophic epidermolysis bullosa: a review. Clinical, Cosmetic and Investigational Dermatology, 275. https://doi.org/10.2147/ccid.s54681

Trujillo, M. J. (2019). Diagnóstico prenatal y diagnostico pre- implantacional en Epidermolisis bullosa. DEBRA. https:// www.pieldemariposa.es/wp-content/uploads/2019/03/ Diagnostico-prenatal-y-diagnostico-pre_implantacional- EB.pdf

D’Alessio, M., Zambruno, G., Charlesworth, A., Lacour, J., & Meneguzzi, G. (2008). Immunofluorescence Analysis of Villous Trophoblasts: A Tool for Prenatal Diagnosis of Inherited Epidermolysis Bullosa with Pyloric Atresia. Journal of Investigative Dermatology, 128(12), 2815–2819. https:// doi.org/10.1038/jid.2008.143

Manomy, P. Yenamandra, V., Dabas, G., Joshi, P., Ambekar, A., Sreenivas, V., Sharma, V., Vatsa, M., Ravindran, S., Sethuraman, G. (2021). Impact of a Psychodermatological Education Package on the Subjective Distress, Family Burden, and Quality of Life among the Primary Caregivers of Children Affected with Epidermolysis Bullosa. Indian Dermatology Online Journal. India. https://doi.org/10.4103/ idoj.idoj_658_19

Lim, K., McEvoy, M., Pittelkow, S. (1996). Generalized gravis junctional epidermolysis bullosa: case report, laboratory evaluation, and review of recent advances. https:// pubmed.ncbi.nlm.nih.gov/8790263/

Sangha N, MacLellan AN, Pope E. (2021). Impacto psicosocial de la epidermólisis ampollosa en los pacientes: un estudio cualitativo. Pediatr Dermatol. 38(4):819-24. http:// dx.doi.org/10.1111/pde.14656

Prodinger C, Reichelt J, Bauer JW, Laimer M. (2019). Epidermolysis bullosa: advances in research and treatment. Exp Dermatol. 28(10):1176-89. https://doi.org/10.1111/ exd.13979

Miyamoto, D., Gordilho, J. O., Santi, C. G., & Porro, A. M. (2022). Epidermolysis bullosa acquisita. Anais Brasileiros De Dermatologia, 97(4), 409–423. https://doi.org/10.1016/j. abd.2021.09.010

Vidal, G., Carrau, F., Lizarraga, M., & Álvarez, M. (2018). Epidermólisis ampollar: a propósito de un caso clínico. Archivos De Pediatría Del Uruguay, 89(6), 382–388. https:// doi.org/10.31134/ap.89.6.4

Santana, J. D., Zamora, R., Vázquez, G., & López, A. (2021). Epidermólisis ampollosa, reporte de un caso. Universidad Médica Pinareña, 17(2). https://dialnet.unirioja.es/servlet/ articulo?codigo=8198597

Hernández, R., Morales, M., & Castro, J. A. (2021). Rehabilitación domiciliaria de la epidermólisis bullosa. Medicentro Electrónica, 15(1). http://scielo.sld.cu/scielo. php?script=sci_arttext&pid=S1029-30432021000100126

Raspini, M., & Manrique, M. L. (2013). Estado nutricional en pacientes con Epidermilósis Bullosa. Universidad FASTA. http://redi.ufasta.edu.ar:8082/jspui/ handle/123456789/3266

Vázquez, J. J. (2012). Eficacia del tratamiento con piel quimérica cultivada de las lesiones cutáneas en pacientes con epidermólisis bullosa distrófica recesiva [Tesis Doctoral]. Universidad Autónoma de Madrid.

Biasutto, M., Martínez, M. F. R., Angles, M. V., & Mazzuoccolo, L. D. (2023). Nuevos tratamientos para el manejo de la epidermólisis ampollar. Dermatología Argentina, 29(1), 02–08. https://doi.org/10.47196/ da.v29i1.2312

Butterworth, S., Mason, A. E., & Martin, K. (2019). Epidermolysis bullosa: how social support affects quality of life. Tiempos De Enfermería, 115(5). https://chesterrep. openrepository.com/handle/10034/622253

Chogani, F., Parvizi, M. M., Murrell, D. F., & Handjani, F. (2021). Assessing the quality of life in the families of patients with epidermolysis bullosa: The mothers as main caregivers. International Journal of Women’s Dermatology, 7(5), 721– 726. https://doi.org/10.1016/j.ijwd.2021.08.007

Angelis, A., Kanavos, P., López-Bastida, J., Linertová, R., Oliva-Moreno, J., Serrano-Aguilar, P., De La Paz, M. P., Taruscio, D., Schieppati, A., Iskrov, G., Brodszky, V., Von Der Schulenburg, J. G., Chevreul, K., Persson, U., & Fattore, G. (2016). Social/economic costs and health- related quality of life in patients with epidermolysis bullosa in Europe. European Journal of Health Economics, 17(S1), 31–42. https://doi.org/10.1007/s10198-016-0783-4

Chateau, A., Blackbeard, D., & Aldous, C. (2022). The impact of epidermolysis bullosa on the family and healthcare practitioners: a scoping review. International Journal of Dermatology, 62(4), 459–475. https://doi.org/10.1111/ ijd.16197

Bruckner, A. L., Losow, M., Wisk, J., Patel, N., Reha, A., Lagast, H., Gault, J., Gershkowitz, J., Kopelan, B., Hund, M., & Murrell, D. F. (2020). The challenges of living with and managing epidermolysis bullosa: insights from patients and caregivers. Orphanet Journal of Rare Diseases, 15(1). https://doi.org/10.1186/s13023-019-1279-y

Fernández AS, Tobajas MET, López MGJ. (2018). Educación sanitaria para enfermería sobre la epidermólisis bullosa. Rev Rol Enferm. 41(2):135-8. https://medes.com/ publication/133944

Silva RA, Souza SPS, Bernardino FBS, Alencastro LCS. (2020). Atención familiar a niños y adolescentes con epidermólisis ampollosa: una revisión integradora de la literatura. Rev Baiana Enferm. 34. doi: http://dx.doi. org/10.18471/rbe.v34.35781

Gorell, E., Wolstencroft, P., (2020). Financial burden of epidermolysis bullosa on patients in the United States. https://doi.org/10.1111/pde.14340

Constitución de la República Federativa del Brasil de 1988. Diario Oficial de la Unión; Brasilia; 05 oct. 1988. 191-A. https://www.acnur.org/fileadmin/Documentos/ BDL/2001/0507.pdf

Bronfenbrenner U. (2011). La ecología del desarrollo humano: hacer a los seres humanos más humanos. Porto Alegre: ArtMed. https://bibliotecadigital.mineduc.cl/ handle/20.500.12365/18032

Andreoli E, Mozzetta A, Angelo C, Paradisi M, Foglio PG. (2002). Epidermolysis bullosa. Psychological and psychosocial aspects. Dermatol Psychosom. 3:77-81. http:// dx.doi.org/10.1159/000064496

Bello, Y., Falabella, A., Schachner, L. (2003). Management of epidermolysis bullosa in infants and children. https://doi. org/10.1016/S0738-081X(03)00050-6

Hernández Barbosa, R. ., Peña Martínez, K. A. ., & Fontecha Puerto, A. T. . (2024). Epidermolysis Bullosa: medical, physical and emotional challenges. NOVA Biomedical Sciences Journal, 22(42). https://doi.org/10.22490/24629448.8200

Download Citation

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Published

Epidermolysis Bullosa: medical, physical and emotional challenges

Declaración de privacidad.

Keywords