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AJP Rep 2016; 06(01): e108-e111
DOI: 10.1055/s-0035-1570386
Case Report
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

A Sporadic Neonatal Case of Epidermolysis Bullosa Simplex Generalized Intermediate with KRT5 and KRT14 Gene Mutations

Hiroyuki Wakiguchi
1   Department of Pediatrics, Graduate School of Medicine, Yamaguchi University, Ube, Yamaguchi, Japan
,
Shunji Hasegawa
1   Department of Pediatrics, Graduate School of Medicine, Yamaguchi University, Ube, Yamaguchi, Japan
,
Shinji Maeba
1   Department of Pediatrics, Graduate School of Medicine, Yamaguchi University, Ube, Yamaguchi, Japan
,
Sasagu Kimura
1   Department of Pediatrics, Graduate School of Medicine, Yamaguchi University, Ube, Yamaguchi, Japan
,
Satoko Ito
2   Division of Pediatrics, JCHO Tokuyama Central Hospital, Shunan, Yamaguchi, Japan
,
Hiroshi Tateishi
2   Division of Pediatrics, JCHO Tokuyama Central Hospital, Shunan, Yamaguchi, Japan
,
Kazuhiro Ueda
3   Division of Pediatrics, Michigami Hospital, Hikari, Yamaguchi, Japan
,
Shouichi Ohga
1   Department of Pediatrics, Graduate School of Medicine, Yamaguchi University, Ube, Yamaguchi, Japan
› Author Affiliations
Further Information

Publication History

12 July 2015

13 November 2015

Publication Date:
26 February 2016 (online)

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Abstract

Background Epidermolysis bullosa simplex (EBS) is a rare genodermatosis resulting from multiple gene mutations, including KRT5 and KRT14. The clinical expression of the mechanobullous skin fragility disease has not been fully explained by the genotype.

Case Description An 11-day-old Japanese newborn infant was hospitalized because of herpetiform skin blistering on the feet, which expanded systemically after birth. There was no evidence of virus infection. The biopsied skin lesion showed a blister on the lamina densa without keratin clumps, indicating a diagnosis of EBS-generalized intermediate. We punctured the blisters to remove the contents daily, which led to no exacerbation or infection. The genetic study determined that the patient carried double substitutions of KRT5 c.1424A > G (p.E475G) and KRT14 c.1237G > A (p.A413T). The asymptomatic mother and sister carried the KRT14 substitution, but the healthy father had no substitution of the KRT gene.

Conclusion This is the first report of EBS-generalized intermediate in a newborn with de novo KRT5 gene mutation and KRT14 gene polymorphism, and no familial history of epidermolysis. Neonatal blistering due to EBS requires optimal skin management after excluding infectious and immunobullous diseases.

Keywords

epidermolysis bullosa simplex - KRT5 - KRT14 - mutation - newborn
 

  • References

  • 1 Chamcheu JC, Virtanen M, Navsaria H, Bowden PE, Vahlquist A, Törmä H. Epidermolysis bullosa simplex due to KRT5 mutations: mutation-related differences in cellular fragility and the protective effects of trimethylamine N-oxide in cultured primary keratinocytes. Br J Dermatol 2010; 162 (5) 980-989
    CrossrefPubMedGoogle Scholar
  • 2 Natsuga K, Nishie W, Smith BJ , et al. Consequences of two different amino-acid substitutions at the same codon in KRT14 indicate definitive roles of structural distortion in epidermolysis bullosa simplex pathogenesis. J Invest Dermatol 2011; 131 (9) 1869-1876
    CrossrefPubMedGoogle Scholar
  • 3 Premaratne C, Klingberg S, Glass I, Wright K, Murrell D. Epidermolysis bullosa simplex Dowling-Meara due to an arginine to cysteine substitution in exon 1 of keratin 14. Australas J Dermatol 2002; 43 (1) 28-34
    CrossrefPubMedGoogle Scholar
  • 4 Fine JD, Bruckner-Tuderman L, Eady RA , et al. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol 2014; 70 (6) 1103-1126
    CrossrefPubMedGoogle Scholar
  • 5 Nischler E, Klausegger A, Huttner C , et al. Diagnostic algorithm of blisters and erosions in newborns. Dermatol Res Pract 2009; 2009: 320403
    PubMedGoogle Scholar
  • 6 Anton-Lamprecht I, Schnyder UW. Epidermolysis bullosa herpetiformis Dowling-Meara. Report of a case and pathomorphogenesis. Dermatologica 1982; 164 (4) 221-235
    CrossrefPubMedGoogle Scholar
  • 7 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 (6) 1051-1066
    CrossrefPubMedGoogle Scholar
  • 8 Gonzalez ME. Evaluation and treatment of the newborn with epidermolysis bullosa. Semin Perinatol 2013; 37 (1) 32-39
    CrossrefPubMedGoogle Scholar
  • 9 Bolling MC, Lemmink HH, Jansen GH, Jonkman MF. Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients. Br J Dermatol 2011; 164 (3) 637-644
    PubMedGoogle Scholar
  • 10 Kang TW, Lee JS, Kim SE, Oh SW, Kim SC. Novel and recurrent mutations in Keratin 5 and 14 in Korean patients with Epidermolysis bullosa simplex. J Dermatol Sci 2010; 57 (2) 90-94
    CrossrefPubMedGoogle Scholar
  • 11 Minakawa S, Nakano H, Nakajima K , et al. Mutational analysis on 16 Japanese population cases with epidermolysis bullosa simplex. J Dermatol Sci 2013; 72 (3) 330-332
    CrossrefPubMedGoogle Scholar
  • 12 Lane EB, Rugg EL, Navsaria H , et al. A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering. Nature 1992; 356 (6366) 244-246
    CrossrefPubMedGoogle Scholar
  • 13 Wertheim-Tysarowska K, Sota J, Kutkowska-Kaźmierczak A, Woźniak K, Bal J, Kowalewski C. Coexistence of KRT14 and KRT5 mutations in a Polish patient with epidermolysis bullosa simplex. Br J Dermatol 2014; 170 (2) 468-469
    CrossrefPubMedGoogle Scholar
  • 14 Coulombe PA, Kerns ML, Fuchs E. Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility. J Clin Invest 2009; 119 (7) 1784-1793
    CrossrefPubMedGoogle Scholar