Genotype, Clinical Course, and Therapeutic Decision Making in 76 Infants with Severe Generalized Junctional Epidermolysis Bullosa

Journal of Investigative Dermatology

Volumn 136, Issue 11, 2016, Pages 2150-2157

  Hammersen, Johanna ^a   Has, Cristina ^b   Naumann Bartsch, Nora ^a   Stachel, Daniel ^a   Kiritsi, Dimitra ^b   Söder, Stephan ^a   Tardieu, Mathilde ^c   Metzler, Markus ^a   Bruckner Tuderman, Leena ^b   Schneider, Holm ^a  

^a UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^b UNIVERSITY OF FREIBURG   (Germany)

^c GRENOBLE UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

KALININ; CELL ADHESION MOLECULE; DNA; LAMC2 PROTEIN, HUMAN; LAMININ; LAMININ ALPHA 3;

ALLOGENEIC STEM CELL TRANSPLANTATION; ARTICLE; CHILD; CLINICAL DECISION MAKING; CONTROLLED STUDY; DISEASE COURSE; DISEASE SEVERITY; EPIDERMOLYSIS BULLOSA; FAILURE TO THRIVE; FEMALE; GENOTYPE; HOMOZYGOTE; HUMAN; HUMAN TISSUE; INCIDENCE; INFANT; LIFE EXPECTANCY; MAJOR CLINICAL STUDY; MALE; MUTATION; PRIORITY JOURNAL; RETROSPECTIVE STUDY; WEIGHT GAIN; BIOPSY; DECISION MAKING; DNA MUTATIONAL ANALYSIS; EPIDERMOLYSIS BULLOSA, JUNCTIONAL; FOLLOW UP; GENETICS; METABOLISM; PATHOLOGY; PROCEDURES; SKIN; STEM CELL TRANSPLANTATION;

BIOPSY; CELL ADHESION MOLECULES; DECISION MAKING; DNA; DNA MUTATIONAL ANALYSIS; EPIDERMOLYSIS BULLOSA, JUNCTIONAL; FEMALE; FOLLOW-UP STUDIES; GENOTYPE; HOMOZYGOTE; HUMANS; INFANT; LAMININ; MALE; MUTATION; RETROSPECTIVE STUDIES; SKIN; STEM CELL TRANSPLANTATION;

EID: 84994761221     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1016/j.jid.2016.06.609     Document Type: Article

References (31)

1. Ayoub, N., Tomb, R., Charlesworth, A., Meneguzzi, G., Junctional epidermolysis bullosa. Identification of a new mutation in two Lebanese families. Ann Dermatol Venereol 132 (2005), 550–553.
2. Badiavas, E.V., Abedi, M., Butmarc, J., Falanga, V., Quesenberry, P., Participation of bone marrow derived cells in cutaneous wound healing. J Cell Physiol 196 (2003), 245–250.
3. Fine, J.D., Johnson, L.B., Weiner, M., Suchindran, C., Cause-specific risks of childhood death in inherited epidermolysis bullosa. J Pediatr 152 (2008), 276–280.
4. Fine, J.D., Bruckner-Tuderman, L., Eady, R.A., Bauer, E.A., Bauer, J.W., Has, C., et al. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol 70 (2014), 1103–1126.
5. Geyer, M.B., Radhakrishnan, K., Giller, R., Umegaki, N., Harel, S., Kiuru, M., et al. Reduced toxicity conditioning and allogeneic hematopoietic progenitor cell transplantation for recessive dystrophic epidermolysis bullosa. J Pediatr 167 (2015), 765–769.
6. Kelly-Mancuso, G., Kopelan, B., Azizkhan, R.G., Lucky, A.W., 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 31 (2014), 159–162.
7. Kiritsi, D., Has, C., Bruckner-Tuderman, L., Laminin 332 in junctional epidermolysis bullosa. Cell Adh Migr 7 (2013), 135–141.
8. Kivirikko, S., McGrath, J.A., Pulkkinen, L., Uitto, J., Christiano, A.M., Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa. Hum Mol Genet 5 (1996), 231–237.
9. Kopp, J., Horch, R.E., Stachel, K.D., Holter, W., Kandler, M.A., Hertzberg, H., et al. Hematopoietic stem cell transplantation and subsequent 80% skin exchange by grafts from the same donor in a patient with Herlitz disease. Transplantation 79 (2005), 255–256.
10. Krause, D.S., Theise, N.D., Collector, M.I., Henegariu, O., Hwang, S., Gardner, R., et al. Multi-organ, multi-lineage engraftment by a single bone marrow-derived stem cell. Cell 105 (2001), 369–377.
11. Mühle, C., Jiang, Q.J., Charlesworth, A., Bruckner-Tuderman, L., Meneguzzi, G., Schneider, H., Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease. Hum Genet 116 (2005), 33–42.
12. Murata, H., Janin, A., Leboeuf, C., Soulier, J., Gluckman, E., Meignin, V., et al. Donor-derived cells and human graft-versus-host disease of the skin. Blood 109 (2007), 2663–2665.
13. Nakano, A., Pfendner, E., Hashimoto, I., Uitto, J., Herlitz junctional epidermolysis bullosa: novel and recurrent mutations in the LAMB3 gene and the population carrier frequency. J Invest Dermatol 115 (2000), 493–498.
14. Neuhauser, H., Schienkiewitz, A., Schaffrath Rosario, A., Dortschy, R., Kurth, B.M., Referenzperzentile für anthropometrische Maßzahlen und Blutdruck aus der Studie zur Gesundheit von Kindern und Jugendlichen in Deutschland (KiGGS). Beiträge zur Gesundheitsberichterstattung des Bundes. 2nd edn., 2013, Robert Koch-Institut, Berlin, 22–31.
15. Pacho, F., Zambruno, G., Calabresi, V., Kiritsi, D., Schneider, H., Efficiency of translation termination in humans is highly dependent upon nucleotides in the neighbourhood of a (premature) termination codon. J Med Genet 48 (2011), 640–644.
16. Păunescu, V., Deak, E., Herman, D., Siska, I.R., Tănasie, G., Bunu, C., et al. In vitro differentiation of human mesenchymal stem cells to epithelial lineage. J Cell Mol Med 11 (2007), 502–508.
17. Petrof, G., Lwin, S.M., Martinez-Queipo, M., Abdul-Wahab, A., Tso, S., Mellerio, J.E., et al. Potential of systemic allogeneic mesenchymal stromal cell therapy for children with recessive dystrophic epidermolysis bullosa. J Invest Dermatol 135 (2015), 2319–2321.
18. Pulkkinen, L., Christiano, A.M., Gerecke, D., Wagman, D.W., Burgeson, R.E., Pittelkow, M.R., et al. A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. Genomics 24 (1994), 357–360.
19. Pulkkinen, L., McGrath, J.A., Christiano, A.M., Uitto, J., Detection of sequence variants in the gene encoding the beta 3 chain of laminin 5 (LAMB3). Hum Mutat 6 (1995), 77–84.
20. Schneider, H., Mühle, C., Pacho, F., Biological function of laminin-5 and pathogenic impact of its deficiency. Eur J Cell Biol 86 (2007), 701–717.
21. Schneider, H., Mühle, C., Gene symbol: LAMC2. Disease: Epidermolysis Bullosa, Herlitz. Hum Genet, 123, 2008, 544.
22. Statistisches Bundesamt. Bevölkerung und Erwerbstätigkeit. Zusammenfassende Übersichten Eheschließungen, Geborene und Gestorbene 1946–2014. Wiesbaden, December 2015.
23. Tolar, J., Ishida-Yamamoto, A., Riddle, M., McElmurry, R.T., Osborn, M., Xia, L., et al. Amelioration of epidermolysis bullosa by transfer of wild-type bone marrow cells. Blood 113 (2009), 1167–1174.
24. Tolar, J., Wagner, J.E., Allogeneic blood and bone marrow cells for the treatment of severe epidermolysis bullosa: repair of the extracellular matrix. Lancet 382 (2013), 1214–1223.
25. Van Arnam, J.S., Herzog, E., Grove, J., Bruscia, E., Ziegler, E., Swenson, S., et al. Engraftment of bone marrow-derived epithelial cells. Stem Cell Rev 1 (2005), 21–27.
26. Varki, R., Sadowski, S., Pfendner, E., Uitto, J., Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. J Med Genet 43 (2006), 641–652.
27. Vidal, F., Baudoin, C., Miquel, C., Galliano, M.F., Christiano, A.M., Uitto, J., et al. Cloning of the laminin alpha 3 chain gene (LAMA3) and identification of a homozygous deletion in a patient with Herlitz junctional epidermolysis bullosa. Genomics 30 (1995), 273–280.
28. Wagner, J.E., Ishida-Yamamoto, A., McGrath, J.A., Hordinsky, M., Keene, D.R., Woodley, D.T., et al. Bone marrow transplantation for recessive dystrophic epidermolysis bullosa. N Engl J Med 363 (2010), 629–639.
29. Yan, E.G., Paris, J.J., Ahluwalia, J., Lane, A.T., Bruckner, A.L., Treatment decision-making for patients with the Herlitz subtype of junctional epidermolysis bullosa. J Perinatol 27 (2007), 307–311.
30. Yates, A., Akanni, W., Amode, M.R., Barrell, D., Billis, K., Carvalho-Silva, D., et al. Ensembl 2016. Nucleic Acids Res 44 (2016), D710–D716.
31. Yuen, W.Y., Lemmink, H.H., van Dijk-Bos, K.K., Sinke, R.J., Jonkman, M.F., Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands. Br J Dermatol 165 (2011), 1314–1322.