Diagnóstico y cuidado del recién nacido con epidermólisis ampollar

1. Fine JD. Epidemiology of inherited epidermolysis bullosa based on incidence and prevalence estimates from the National Epidermolysis Bullosa Registry. JAMA Dermatol. 2016;152(11):1231–1238

2. Has C, Bauer JW, Bodemer C, et al. Consensus re-classification of inherited epidermolysis bullosa and other disorders with skin fragility. Br J Dermatol. 2020;183(4):614–627

3. Bardhan A, Bruckner-Tuderman L, Chapple ILC, et al. Epidermolysis bullosa. Nat Rev Dis Primers. 2020;6(1):78

4. Boesen ML, Bygum A, Hertz JM, Zachariassen G. Newborn with severe epidermolysis bullosa: to treat or not to treat? BMJ Case Rep. 2016;2016:bcr2016214727

5. Kelly-Mancuso G, Kopelan B, Azizkhan RG, Lucky AW. 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):159–162

6. Yan EG, Paris JJ, Ahluwalia J, Lane AT, Bruckner AL. Treatment decision-making for patients with the Herlitz subtype of junctional epidermolysis bullosa. J Perinatol. 2007;27(5):307–311

7. Has C, Liu L, Bolling MC, et al. Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa. Br J Dermatol. 2020; 182(3):574–592

8. Intong LR, Murrell DF. How to take skin biopsies for epidermolysis bullosa. Dermatol Clin. 2010;28(2):197–200, vii [vii]

9.Kr€amer S, Fuentes I, Yubero MJ, et al. Absence of tongue papillae as a clinical criterion for the diagnosis of generalized recessive dystrophic epidermolysis bullosa types. J Am Acad Dermatol. 2020; 83(6):1815–1816

10. Pfendner EG, Lucky AW. Junctional epidermolysis bullosa. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. Gene Reviews. Seattle, WA: University of Washington, Seattle; 1993.

11. Fine JD. Inherited epidermolysis bullosa. Orphanet J Rare Dis. 2010;5:12

12. Pfendner EG, Lucky AW. Epidermolysis bullosa with pyloric atresia. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews. Seattle, WA: University of Washington, Seattle; 1993.

13. Bolognia JL, Schaffer JV, Cerroni L. Dermatology. 4th ed. Philadelphia, PA: Elsevier Saunders; 2018

14. Watson KD, Schoch JJ, Beek GJ, Hand JL. Compound heterozygosity of dominant and recessive COL7A alleles in a severely affected patient with a family history of dystrophic epidermolysis bullosa: clinical findings, genetic testing, and treatment implications. Pediatr Dermatol. 2017;34(2):166–171

15. Yuen WY, Duipmans JC, Jonkman MF. The needs of parents with children suffering from lethal epidermolysis bullosa. Br J Dermatol. 2012;167(3):613–618

16. Yang CS, Kroshinksy D, Cummings BM. Neonatal junctional epidermolysis bullosa: treatment conundrums and ethical decision making. Am J Clin Dermatol. 2014;15(5):445–450

17. Phillips GS, Augsburger BD, Peoples K, et al. P53: Diagnostic testing patterns, chronology, and concordance in a large epidermolysis bullosa cohort [abstract]. Acta Derm Venereol. 2020;100:48

18. Yuen WY, Duipmans JC, Molenbuur B, Herpertz I, Mandema JM, Jonkman MF. Long-term follow-up of patients with Herlitz-type junctional epidermolysis bullosa. Br J Dermatol. 2012;167(2):374–382

19. Feinstein JA, Jambal P, Peoples K, et al. Assessment of the timing of milestone clinical events in patients with epidermolysis bullosa from North America. JAMA Dermatol. 2019;155(2):196–203

20. Lucky AW, Dagaonkar N, Lammers K, Husami A, Kissell D, Zhang K. A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa. Pediatr Dermatol. 2018;35(2):188–197

21. Tenedini E, Artuso L, Bernardis I, et al. Amplicon-based next generation sequencing: an effective approach for the molecular diagnosis of epidermolysis bullosa. Br J Dermatol. 2015;173(3):731–738

22. Vahidnezhad H, Youssefian L, Saeidian AH, et al. Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa. Hum Mutat. 2018;39(10): 1349–1354

23. Takeichi T, Liu L, Fong K, et al. Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory. Br J Dermatol. 2015;172(1):94–100

24. Has C, K€usel J, Reimer A, et al. The position of targeted next generation sequencing in epidermolysis bullosa diagnosis. Acta Derm Venereol. 2018;98(4):437–440

25. Yenamandra VK, Vellarikkal SK, Kumar M, et al. Application of whole exome sequencing in elucidating the phenotype and genotype spectrum of junctional epidermolysis bullosa: A preliminary experience of a tertiary care centre in India. J Dermatol Sci. 2017;86(1): 30–36

26. Lunke S, Eggers S, Wilson M, et al; Australian Genomics Health Alliance Acute Care Flagship. Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the Australian Public Health Care System. JAMA. 2020;323(24):2503–2511