Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification

Journal of the American Academy of Dermatology

Volumn 70, Issue 6, 2014, Pages 1103-1126

  Fine, Jo David ^a,b   Bruckner Tuderman, Leena ^c   Eady, Robin A J ^d   Bauer, Eugene A ^e   Bauer, Johann W ^f   Has, Cristina ^c   Heagerty, Adrian ^g   Hintner, Helmut ^f   Hovnanian, Alain ^h   Jonkman, Marcel F ⁱ   Leigh, Irene ^j   Marinkovich, M Peter ^e,k   Martinez, Anna E ^l   McGrath, John A ^d   Mellerio, Jemima E ^d,l   Moss, Celia ^m   Murrell, Dedee F ⁿ   Shimizu, Hiroshi ^o   Uitto, Jouni ^p   Woodley, David ^q   Zambruno, Giovanna ^r   more..

^a VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^c UNIVERSITY OF FREIBURG   (Germany)

^d ST THOMAS HOSPITAL   (United Kingdom)

^e STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f PARACELSUS MEDICAL UNIVERSITY   (Austria)

^g UNIVERSITY HOSPITALS BIRMINGHAM NHS FOUNDATION TRUST   (United Kingdom)

^h INSERM   (France)

ⁱ UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^j UNIVERSITY OF DUNDEE   (United Kingdom)

^k VA PALO ALTO HEALTH CARE SYSTEM   (United States)

^l GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^m UNIVERSITY OF BIRMINGHAM   (United Kingdom)

ⁿ ST GEORGE HOSPITAL   (Australia)

^o HOKKAIDO UNIVERSITY   (Japan)

^p THOMAS JEFFERSON UNIVERSITY   (United States)

^q UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^r LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

more..

Author keywords

classification; diagnosis; electron microscopy; epidermolysis bullosa; gene; genetics; monoclonal antibodies

Indexed keywords

ALPHA3 INTEGRIN; ALPHA6BETA4 INTEGRIN; BULLOUS PEMPHIGOID ANTIGEN 1; COLLAGEN TYPE 17; COLLAGEN TYPE 7; COMEODESMOSIN; CYTOKERATIN 14; CYTOKERATIN 5; DESMOCOLLIN; DESMOPLAKIN; EXOPHILIN 5; KALININ; KINDLIN 1; MEMBRANE PROTEIN; MONOCLONAL ANTIBODY; MUTANT PROTEIN; N ACETYLGALACTOSAMINE; PLAKOGLOBIN; PLAKOPHILIN; PLECTIN; STEFIN A; TRANSGLUTAMINASE 5; UNCLASSIFIED DRUG;

AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL FEATURE; CONSENSUS; DIFFERENTIAL DIAGNOSIS; DISEASE ACTIVITY; DISEASE CLASSIFICATION; DISEASE SEVERITY; ELECTRON MICROSCOPY; EPIDERMOLYSIS BULLOSA; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EPIDERMOLYSIS BULLOSA SIMPLEX; FAMILY HISTORY; GENE EXPRESSION; GENE MUTATION; GENETIC COUNSELING; IMMUNOFLUORESCENCE; LABORATORY DIAGNOSIS; LABORATORY TEST; MUTATIONAL ANALYSIS; NOMENCLATURE; NONSENSE MUTATION; PHENOTYPIC VARIATION; POIKILODERMA; PRIORITY JOURNAL; REVIEW; SKIN BIOPSY; CLASSIFICATION; EPIDEMIOLOGY; FEMALE; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION; GENETICS; HUMAN; INCIDENCE; MALE; PROGNOSIS; SENSITIVITY AND SPECIFICITY; SEVERITY OF ILLNESS INDEX;

CONSENSUS; EPIDERMOLYSIS BULLOSA; FEMALE; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INCIDENCE; MALE; PROGNOSIS; SENSITIVITY AND SPECIFICITY; SEVERITY OF ILLNESS INDEX;

EID: 84901242657     PISSN: 01909622     EISSN: 10976787     Source Type: Journal    
DOI: 10.1016/j.jaad.2014.01.903     Document Type: Review

References (32)

1. J.-D. Fine, R.A.J. Eady, J.A. Bauer, J.W. Bauer, L. Bruckner-Tuderman, and A. Heagerty 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 58 2008 931 950
2. R.W. Pearson Studies on the pathogenesis of epidermolysis bullosa J Invest Dermatol 39 1962 551 575
3. V. Karamatic Crew, N. Burton, A. Kagan, C.A. Green, C. Levene, and F. Flinter et al. CD151, the first member of the tetraspan (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin Blood 104 2004 2217 2223
4. M. Ayub, S. Basit, M. Jelani, F. Ur Rehman, M. Iqbal, M. Yasinzai, and W. Ahmad A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles Am J Hum Genet 85 2009 515 520
5. A.S. Payne No evidence of skin blisters with human desmocollin-3 gene mutation Am J Hum Genet 86 2010 292
6. D.C. Blaydon, D. Nitoiu, K.M. Eckl, R.M. Cabral, P. Bland, and I. Hausser et al. Mutations in CSTA, encoding cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion Am J Hum Genet 89 2011 564 571
7. A.L. Krunic, K.L. Stone, M.A. Simpson, and J.A. McGrath Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A Pediatr Dermatol 30 2013 e87 e88
8. R.M. Cabral, M. Kurban, M. Wajid, Y. Shimomura, L. Petukhova, and A.M. Christiano Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome Genomics 99 2012 202 208
9. N.J. Wilson, A.G. Messenger, S.A. Leachman, E.A. O'Toole, E.B. Lane, W.H. McLean, and F.J. Smith Keratin K6c mutations cause focal palmoplantar keratoderma J Invest Dermatol 130 2010 425 429
10. D. Kiritsi, I. Cosgarea, C.W. Franzke, H. Schumann, V. Oji, and J. Kohlhase et al. Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals J Invest Dermatol 130 2010 1741 1746
11. J.F. Jonkman, A.M. Pasmooij, S.G. Pasmans, M.P. van den Berg, H.J. Ter Horst, A. Timmer, and H.H. Pas Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa Am J Hum Genet 77 2005 653 660
12. R.P. Hobbs, S.Y. Han, P.A. van der Zwaag, M.C. Bolling, J.D. Jongbloed, and M.F. Jonkman et al. Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa J Invest Dermatol 130 2010 2680 2683
13. M.C. Bolling, M.J. Veenstra, M.F. Jonkman, G.F. Diercks, C.J. Curry, and J. Fisher et al. Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart Br J Dermatol 162 2010 1388 1394
14. M. Pigors, D. Kiritsi, S. Krumpelmann, N. Wagner, Y. He, and M. Podda et al. Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity Hum Mol Genet 20 2011 1811 1819
15. M. Pigors, D. Kiritsi, C. Cobzaru, A. Schwieger-Briel, J. Suárez, and F. Faletra et al. TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome J Invest Dermatol 132 2012 2422 2429
16. J.A. McGrath, and J.E. Mellerio Ectodermal dysplasia-skin fragility syndrome Dermatol Clin 28 2010 125 129
17. J.A. McGrath, K.L. Stone, R. Begum, M.A. Simpson, P.J. Dopping-Hepenstal, and L. Liu et al. Germline mutation in EXPH5 implicates the Rab27B effector protein Slac2-b in inherited skin fragility Am J Hum Genet 91 2012 1115 1121
18. M. Pigors, A. Schwieger-Briel, J. Leppert, D. Kiritsi, J. Kohlhase, and L. Bruckner-Tuderman et al. Molecular heterogeneity of epidermolysis bullosa simplex: contribution of EXPH5 mutations J Invest Dermatol 134 2014 842 845
19. R.W. Groves, L. Liu, P.J. Dopping-Hepenstal, H.S. Markus, P.A. Lovell, and L. Ozoemena et al. A homogeneous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex J Invest Dermatol 130 2010 1551 1557
20. J.-D. Fine, L.B. Johnson, M. Weiner, K.-P. Li, and C. Suchindran Inherited epidermolysis bullosa (EB) and the risk of life-threatening skin-derived cancers: experience of the National EB Registry, 1986-2006 J Am Acad Dermatol 60 2009 203 211
21. W.Y. Yuen, and M.F. Jonkman Risk of squamous cell carcinoma in junctional epidermolysis bullosa, non-Herlitz type: report of 7 cases and a review of the literature J Am Acad Dermatol 65 2011 780 789
22. W.Y. Yuen, A.M.G. Pasmooij, C. Stellingsma, and M.F. Jonkman Enamel defects in carriers of a novel LAMA3 mutation underlying epidermolysis bullosa Acta Derm Venereol 92 2012 695 696
23. T. Asaka, M. Akiyama, T. Domon, W. Nishie, K. Natsuga, and Y. Fujita et al. Type XVII collagen is a key player in tooth enamel formation Am J Pathol 174 2009 91 100
24. C. Has, D. Castiglia, M. del Rio, M.G. Diez, E. Piccinni, and D. Kiritsi et al. Kindler syndrome: extension of FERMT1 mutational spectrum and natural history Hum Mutat 32 2011 1204 1212
25. F.J. Smith, N.J. Wilson, C. Moss, P. Dopping-Hepenstal, and J. McGrath Compound heterozygous mutations in desmoplakin cause skin fragility and woolly hair Br J Dermatol 166 2012 894 896
26. R.M. Cabral, L. Liu, C. Hogan, P.J. Dopping-Hepenstal, B.C. Winik, and R.A. Asial et al. Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children J Invest Dermatol 130 2010 1543 1550
27. E. Yiasemides, N. Trisnowati, J. Su, N. Dang, S. Klingberg, and P. Marr et al. Clinical heterogeneity in recessive epidermolysis bullosa due to mutations in the keratin 14 gene, KRT14 Clin Exp Dermatol 33 2008 689 697
28. D. Kiritsi, M. Pigors, I. Tantcheva-Poor, C. Wessel, M.J. Arin, and J. Kohlhase et al. Epidermolysis bullosa simplex Ogna revisited J Invest Dermatol 133 2013 270 273
29. N. Dang, S. Klingberg, A.I. Rubin, M. Edwards, S. Borelli, and J. Relic 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 review of the literature Acta Derm Venereol 88 2008 438 448
30. W.Y. Yuen, H.H. Pas, R.J. Sinke, and M.F. Jonkman Junctional epidermolysis bullosa of late onset explained by mutations in COL17A1 Br J Dermatol 164 2011 1280 1284
31. C. Has, G. Sparta, D. Kiritsi, L. Weibel, A. Moeller, and V. Vega-Warner et al. Integrin alpha3 mutations with kidney, lung, and skin disease N Engl J Med 366 2012 1508 1514
32. N. Nicolaou, C. Margadant, S.H. Kevelam, M.R. Lilien, M.J. Oosterveld, and M. Kreft et al. Gain of glycosylation in integrin alpha3 causes lung disease and nephrotic syndrome J Clin Invest 122 2012 4375 4387