Neonatal epidermolysis bullosa: lessons to learn about genetic counseling

References

• Hon KLE, Choi PCL, Burd A, et al. Epidermolysis bullosa dystrophica in a Chinese neonate. Hong Kong J Paediatr. 2007;12:137–143.
   Google Scholar
• Hon KL, Burd A, Choi PC, et al. Epidermolysis bullosa in three Chinese neonates. J Dermatolog Treat. 2007;18:306–311.
   PubMed Web of Science ®Google Scholar
• 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;58:931–950.
   PubMed Web of Science ®Google Scholar
• Fu AC, Hon KL, Choi PC. A neonate with generalised bullae and pyloric atresia. Hong Kong Med J. 2013;19:188–2.
   PubMed Web of Science ®Google Scholar
• Intong LR, Murrell DF. Inherited epidermolysis bullosa: new diagnostic criteria and classification. Clin Dermatol. 2012;30:70–77.
   PubMed Web of Science ®Google Scholar
• Lin AN, Carter DM. Epidermolysis bullosa. Annu Rev Med. 1993;44:189–199.
   PubMed Web of Science ®Google Scholar
• Fine JD, McGrath J, Eady RA. Inherited epidermolysis bullosa comes into the new millenium: a revised classification system based on current knowledge of pathogenetic mechanisms and the clinical, laboratory, and epidemiologic findings of large, well-defined patient cohorts. J Am Acad Dermatol. 2000;43:135–137.
   PubMed Web of Science ®Google Scholar
• Fine JD, Eady RA, Bauer EA, et al. Revised classification system for inherited epidermolysis bullosa: report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa. J Am Acad Dermatol. 2000;42:1051–1066.
   PubMed Web of Science ®Google Scholar
• Eady RA. Epidermolysis bullosa: scientific advances and therapeutic challenges. J Dermatol. 2001;28:638.
   PubMed Web of Science ®Google Scholar
• Pfendner EG, Nakano A, Pulkkinen L, et al. Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk. Prenat Diagn. 2003;23:447–456.
   PubMed Web of Science ®Google Scholar
• Ergun GA, Lin AN, Dannenberg AJ, et al. Gastrointestinal manifestations of epidermolysis bullosa. A study of 101 patients. Medicine. 1992;71:121–127.
   PubMed Web of Science ®Google Scholar
• Pfendner EG, Lucky AW, Masunaga T, et al. Epidermolysis bullosa with pyloric atresia compound heterozygosity for novel splice site mutations of ITGA6 in lethal junctional epidermolysis bullosa with pyloric atresia. J Dermatol. 2017;44:160–166.
   PubMed Web of Science ®Google Scholar
• Pulkkinen L, Marinkovich MP, Tran HT, et al. Compound heterozygosity for novel splice site mutations in the BPAG2/COL17A1 gene underlies generalized atrophic benign epidermolysis bullosa. J Invest Dermatol. 1999;113:1114–1118.
   PubMed Web of Science ®Google Scholar
• Dang N, Klingberg S, Rubin AI, et al. Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the literature. Acta Derm Venerol. 2008;88:438–448.
   PubMed Web of Science ®Google Scholar
• Fine JD, Johnson LB, Weiner M, et al. Cause-specific risks of childhood death in inherited epidermolysis bullosa. J Pediatr. 2008;152:276–280.
   PubMed Web of Science ®Google Scholar
• Kho YC, Rhodes LM, Robertson SJ, et al. Epidemiology of epidermolysis bullosa in the antipodes: the Australasian Epidermolysis Bullosa Registry with a focus on Herlitz junctional epidermolysis bullosa. Arch Dermatol. 2010;146:635–640.
   PubMedGoogle Scholar
• Yuen WY, Duipmans JC, Molenbuur B, et al. Long-term follow-up of patients with Herlitz-type junctional epidermolysis bullosa. Br J Dermatol. 2012;167:374–382.
   PubMed Web of Science ®Google Scholar
• Fine JD, Johnson LB, Weiner M, et al. Inherited epidermolysis bullosa and the risk of death from renal disease: experience of the National Epidermolysis Bullosa Registry. Am J Kidney Dis. 2004;44:651–660.
   PubMed Web of Science ®Google Scholar
• Fine JD, Johnson LB, Weiner M, et al. Tracheolaryngeal complications of inherited epidermolysis bullosa: cumulative experience of the national epidermolysis bullosa registry. Laryngoscope. 2007;117:1652–1660.
   PubMed Web of Science ®Google Scholar
• Fine JD, Hall M, Weiner M, et al. The risk of cardiomyopathy in inherited epidermolysis bullosa. Br J Dermatol. 2008;159:677–682.
   PubMed Web of Science ®Google Scholar
• Fine JD, Johnson LB, Weiner M, et al. Epidermolysis bullosa and the risk of life-threatening cancers: the National EB Registry experience, 1986-2006. J Am Acad Dermatol. 2009;60:203–211.
   PubMed Web of Science ®Google Scholar
• Liu RM, Papsin BC, de Jong AL. Epidermolysis bullosa of the head and neck: a case report of laryngotracheal involvement and 10-year review of cases at the Hospital for Sick Children. J Otolaryngol. 1999;28:76–82.
   PubMedGoogle Scholar
• Kern JS, Gruninger G, Imsak R, et al. Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort. Br J Dermatol. 2009;161:1089–1097.
   PubMed Web of Science ®Google Scholar
• Hon KL, Li JJ, Cheng BL, et al. Age and etiology of childhood epidermolysis bullosa mortality. J Dermatolog Treat. 2015;26:178–82.
   Web of Science ®Google Scholar
• Fassihi H, Lu L, Wessagowit V, et al. Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities. J Invest Dermatol. 2006;126:2039–2043.
   PubMed Web of Science ®Google Scholar
• Lin Y, Chen XJ, Liu W, et al. Two novel mutations on exon 8 and intron 65 of COL7A1 gene in two Chinese brothers result in recessive dystrophic epidermolysis bullosa. PLoS One. 2012;7:e50579.
   PubMed Web of Science ®Google Scholar
• Jiang W, Sun TT, Lei PC, et al. Genotype-phenotype correlation in Chinese patients with dystrophic epidermolysis bullosa pruriginosa. Acta Derm Venerol. 2012;92:50–53.
   PubMed Web of Science ®Google Scholar
• Masse M, Cserhalmi-Friedman PB, Falanga V, et al. Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa. Clin Exp Dermatol. 2005;30:289–293.
   PubMed Web of Science ®Google Scholar
• Nakamura H, Sawamura D, Goto M, et al. The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa. J Dermatol Sci. 2004;34:195–200.
   PubMed Web of Science ®Google Scholar
• Tang WY, Lee KC, Chow TC, et al. Three Hong Kong Chinese cases of pretibial epidermolysis bullosa: a genodermatosis that can masquerade as an acquired inflammatory disease. Clin Exp Dermatol. 1999;24:149–153.
   PubMed Web of Science ®Google Scholar
• Christiano AM, McGrath JA, Tan KC, et al. Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance. Am J Hum Genet. 1996;58:671–681.
   PubMed Web of Science ®Google Scholar
• Chong SC, Hon KL, Scaglia F, et al. Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5. Case Rep Pediatr. 2020:4206348.
   Google Scholar
• Allman S, Haynes L, MacKinnon P, et al. Nutrition in dystrophic epidermolysis bullosa. Pediatr Dermatol. 1992;9:231–238.
   PubMed Web of Science ®Google Scholar