Epidermolysis Bullosa (EB) is a group of genetic bullous disorders characterized by skin fragility and blistering of the skin and mucous membranes in response to minimal trauma. Although clinically and genetically very heterogeneous, it has been classified into four main types according to the layer of the skin in which blistering occurs: epidermolysis bullosa simplex, junctional epidermolysis bullosa, dystrophic epidermolysis bullosa and Kindler epidermolysis bullosa. The clinical heterogeneity results from the different distribution of the blisters, severity of cutaneous lesions and extracutaneous signs. Onset of symptoms usually occurs at birth or shortly after and is transmitted both in an autosomal dominant and recessive pattern.
The Igenomix Epidermolysis Bullosa Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of blisters ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
- The Igenomix Epidermolysis Bullosa Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations:
- Superficial blisters with minimal trauma located in the mucosa: oral, nasopharyngeal, ocular, genitourinary, GI or respiratory
- Crusted erosions
- Family history of blistering disease
- Nail dystrophy
The clinical utility of this panel is:
- The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
- Early initiation of treatment with a multidisciplinary team in the form of medical care for optimization of wound healing, nutritional management, and surgical care for reconstruction or malignancy.
- Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
- Improvement of delineation of genotype-phenotype correlation.
Fine, J. D., Bruckner-Tuderman, L., Eady, R. A., Bauer, E. A., Bauer, J. W., 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. Journal of the American Academy of Dermatology, 70(6), 1103–1126. https://doi.org/10.1016/j.jaad.2014.01.903
Mariath, L. M., Santin, J. T., Schuler-Faccini, L., & Kiszewski, A. E. (2020). Inherited epidermolysis bullosa: update on the clinical and genetic aspects. Anais brasileiros de dermatologia, 95(5), 551–569. https://doi.org/10.1016/j.abd.2020.05.001
Lykova, S. G., Maksimova, Y. V., Nemchaninova, O. B., Guseva, S. N., Omigov, V. V., & Aidagulova, S. V. (2018). Vrozhdennyĭ bulleznyĭ épidermoliz [Inherited epidermolysis bullosa]. Arkhiv patologii, 80(4), 54–60. https://doi.org/10.17116/patol201880454
Has, C., & Fischer, J. (2019). Inherited epidermolysis bullosa: New diagnostics and new clinical phenotypes. Experimental dermatology, 28(10), 1146–1152. https://doi.org/10.1111/exd.13668
Pfendner EG, Bruckner AL. Epidermolysis Bullosa Simplex. 1998 Oct 7 [Updated 2016 Oct 13]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1369/
Fine, J. (2010). Inherited epidermolysis bullosa: Past, present, and future. Annals of the New York Academy of Sciences, 1194(1), 213-222. doi:10.1111/j.1749-6632.2010.05463.x
Sawamura, D., Nakano, H., & Matsuzaki, Y. (2010). Overview of epidermolysis bullosa. The Journal of Dermatology, 37(3), 214-219. doi:10.1111/j.1346-8138.2009.00800.x
Fine JD, 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