Evaluation and treatment of the newborn with epidermolysis bullosa

Seminars in Perinatology

Volumn 37, Issue 1, 2013, Pages 32-39

  Gonzalez, Mercedes E ^a  

^a NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Blistering; Congenital; Epidermolysis bullosa; Neonate; Newborn; Wound

Indexed keywords

ANTIBIOTIC AGENT;

BLISTER; CLINICAL FEATURE; ELECTRON MICROSCOPY; EPIDERMOLYSIS BULLOSA; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EPIDERMOLYSIS BULLOSA SIMPLEX; GENE THERAPY; HUMAN; IMMUNOFLUORESCENCE; NEWBORN; PATHOGENESIS; POIKILODERMA; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REVIEW; SKIN BIOPSY; SKIN SURGERY; SOCIAL SUPPORT; WOUND DRESSING; WOUND HEALING; WOUND INFECTION;

BLISTER; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EPIDERMOLYSIS BULLOSA; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EPIDERMOLYSIS BULLOSA, JUNCTIONAL; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; HUMANS; INFANT; INFANT NUTRITION DISORDERS; INFANT, NEWBORN; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; PERIODONTAL DISEASES; PHOTOSENSITIVITY DISORDERS; PREGNANCY; SEVERITY OF ILLNESS INDEX; SKIN; WOUNDS AND INJURIES;

EID: 84873934373     PISSN: 01460005     EISSN: 1558075X     Source Type: Journal    
DOI: 10.1053/j.semperi.2012.11.004     Document Type: Review

References (42)

1. Fine J.D. Inherited epidermolysis bullosa: recent basic and clinical advances. Curr Opin Pediatr 2010, 22:453-458.
2. Fine J.D., Eady R.A.J., Bauer E.A., 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.
3. Fine J.D., Johnson L.B., Suchindran C., et al. The epidemiology of inherited EB: findings within American, Canadian, and European study populations. Epidermolysis Bullosa: Clinical, Epidemiologic, and Laboratory Advances, and the Findings of the National Epidermolysis Bullosa Registry Baltimore 1999, 101-113. Johns Hopkins University Press, MD. J.D. Fine, E.A. Bauer, J. McGuire, A. Moshell (Eds.).
4. Fine J.D., Johnson L.B., Weiner M., et al. Tracheolaryngeal complications of inherited epidermolysis bullosa: cumulative experience of the national epidermolysis bullosa registry. Laryngoscope 2007, 117:1652-1660.
5. Fine J.D., Johnson L.B., Weiner M., et al. Cause-specific risks of childhood death in inherited epidermolysis bullosa. J Pediatr 2008, 152:276-280.
6. Kiritsi D, Kern JS, Schumann H, et al. Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa. 48:450-457, 2011.
7. McLean W.H., Irvine A.D., Hamill K.J., et al. An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome. Hum Mol Genet 2003, 12:2395-2409.
8. Lara-Corrales I., Mellerio J.E., Martinez A.E., et al. Dilated cardiomyopathy in epidermolysis bullosa: a retrospective, multicenter study. Pediatr Dermatol 2010, 27:238-243.
9. Fine J.D., Johnson L.B., 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.
10. D'Souza M.A., Kimble R.M., McMillan J.R. Kindler syndrome pathogenesis and fermitin family homologue 1 (kindlin-1) function. Dermatol Clin 2010, 28:115-118.
11. Yazdanfar A., et al. Kindler syndrome. Int J Dermatol 2009, 48:145-149.
12. Nischler E., Lausegger A., Huttner C., et al. Diagnostic pitfalls in newborns and babies with blisters and erosions. Dermatol Res Pract 2009, 2009:320-403.
13. Intong L.R.A., Murrell D.F. How to take skin biopsies for epidermolysis bullosa. Dermatol Clin 2010, 28:197-200.
14. Huligol S.C., Bhogal B.S., Black M.M. Immumofluorescence of the immunobullous disorders: Part One: Methodology. Indian J Dermatol Venereol Leprol 1995, 61:187-195.
15. Pasmooij A.M., Pas H.H., Jansen G.H., et al. Localized and generalized forms of blistering in junctional epidermolysis bullosa due to COL17A1 mutations in the Netherlands. Br J Dermatol 2007, 156:861-870.
16. Fischer E.G. To fix or not to fix; Michel's is the solution. Int J Surg Pathol 2006, 14:108.
17. Vodegel R.M., de Jong M.C., Meijer H.J., et al. Enhanced diagnostic immunofluorescence using biopsies transported in saline. BMC Dermatol 2004, 4:10.
18. Yiasemides E., Walton J., Marr P., et al. A comparative study between transmission electron microscopy and immunofluorescence mapping in the diagnosis of epidermolysis bullosa. Am J Dermatopathol 2006, 28:387-394.
19. Holbrook K.A., Smith L.T., Elias S. Prenatal diagnosis of genetic skin disease using fetal skin biopsy samples. Arch Dermatol 1993, 129:1437-1454.
20. Broen A.N., Moum T., Bodtker A.S., et al. The course of mental health after miscarriage and induced abortion: a longitudinal, five-year follow-up study. BMC Med 2005, 3:18.
21. Fassihi H., Eady R.A., Mellerio J.E., et al. Prenatal diagnosis for severe inherited skin disorders: 25 years' experience. Br J Dermatol 2006, 154:106-113.
22. McGrath J.A., Dunnill M.G., Christiano A.M., et al. First trimester DNA-based exclusion of recessive dystrophic epidermolysis bullosa from chorionic villus sampling. Br J Dermatol 1996, 134:734-739.
23. Pfender E.G., Nakano A., Pulkkien L., et al. Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk. Prenat Diagn 2003, 23:447-456.
24. IFu X.H., Chen H.P. Advances on circulating fetal DNA in maternal plasma. Chin Med J 2007, 120:1256-1259.
25. Uitto J., Pfender E., Jackson L.C. Probing the fetal genome: progress towards non-invasive prenatal diagnosis. Trends Mol Med 2003, 9:339-343.
26. Fassihi H., McGrath J.A. Prenatal Diagnosis of Epidermolysis Bullosa. Dermatol Clin 2010, 28:231-237.
27. Fassihi H., Liu L., Renwick P.J., et al. Development and successful clinical application of preimplantation genetic haplotyping for Herlitz junctional epidermolysis bullosa. Br J Dermatol 2010, 162(6):1330-1336.
28. Ozge A., Safak H., Ebru H., et al. First successful preimplantation genetic diagnosis of epidermolysis bullosa with pyloric atresia: case study of a novel c.4505-4508insACTC mutation. J Assist Reprod 2012, 29(4):347-352.
29. Vendrell X., Bautista-Llácer R., Alberola T.M., et al. Pregnancy after PGD for recessive dystrophic epidermolysis bullosa inversa: genetics and preimplantation genetics. Assist Reprod Genet 2011, 28(9):825-832.
30. Fassihi H., Grace J., Lashwood A., et al. Preimplantation genetic diagnosis of skin fragility-ectodermal dysplasia syndrome. Br J Dermatol 2006, 154:546-550.
31. Siprashvilli Z., Nguyen N.T., Bezchinsky M.Y., et al. Long-term type VII collagen restoration to human epidermolysis bullosa skin tissue. Hum Gene Ther 2010, 21:1299-1310.
32. Igoucheva O., Kelly A., Uitto J., et al. Protein therapeutics for junctional epidermolysis bullosa: incorporation of recombinant Β3 chain into laminin 332 in Β3-/-keratinocytes in vitro. J Invest Dermatol 2008, 128:1476-1486.
33. Wagner J.E., Ishida-Yamamoto A., McGrath J.A., et al. Bone marrow transplantation for recessive dystrophic epidermolysis bullosa. N Engl J Med 2010, 363(7):629-639.
34. 〈〉; Accessed 9.10.12. http://dermatology.stanford.edu/gsdc/eb_clinic/eb-videos.html.
35. Goldschneider K., Lucky A.W., Mellerio J.E., et al. Perioperative Icare of patients with epidermolysis bullosa: proceedings of the 5th international symposium on epidermolysis bullosa, Santiago Chile, December 4-6, 2008. Pediatr Anesth 2010, 20:797-804.
36. 〈〉 Accessed 9.10.12. http://www.debra.org/nurse.
37. 〈〉 Accessed 9.10.12. http://dermatology.stanford.edu/downloads/EB%20care%20tips.pdf.
38. Mellerio J.E. Infection and colonization in epidermolysis bullosa. Dermatol Clin 2010, 28:267-269.
39. Gamelli R.L. Nutritional problems of the acute and chronic burn patient. Relevance to epidermolysis bullosa. Arch Dermatol 1988, 124:756-759.
40. Haynes L. Nutrition for children with epidermolysis bullosa. Dermatol Clin 2010, 28:289-301.
41. Freeman E.B., Koglemeier J., Martinez A.E., et al. Gastrointestinal complications of epidermolysis bullosa in children. Br J Dermatol 2008, 158:1308-1314.
42. Fine J.D., Mellerio J.E. Exracutaneous manifestations and complications of inherited epidermolysis bullosa. Part I. Epithelial associated tissues. J Am Acad Dermatol 2009, 61:367-384.