Novel Keratin 14 Mutations in Patients with Severe Recessive Epidermolysis Bullosa Simplex Cristina Has, Yow-Ren Chang, Andreas Volz, Doris Hoeping,

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Novel Keratin 14 Mutations in Patients with Severe Recessive Epidermolysis Bullosa Simplex Cristina Has, Yow-Ren Chang, Andreas Volz, Doris Hoeping, Jürgen Kohlhase, Leena Bruckner-Tuderman Journal of Investigative Dermatology Volume 126, Issue 8, Pages 1912-1914 (August 2006) DOI: 10.1038/sj.jid.5700312 Copyright © 2006 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Phenotypes of the patients, indirect immunofluorescence staining of skin sections and mutations in the KRT14 gene. (a) Blisters and erosions on the feet of patient 1 at the age of 2 years. (b) Patient 2 at 2 weeks of age showed severe blistering. (c) IIF with antibodies against keratin 5 showed intraepidermal splitting in the skin of patient 2. (d) IIF of control skin with antibodies against keratin 5. (e) IIF staining with antibodies against keratin 14 yielded a negative signal in patient's 1 skin. (f) IIF with antibodies against keratin 14 produced a positive signal in the basal keratinocyte layer in control skin. Bar=100μm (given in (f) but refers to all images). (g) Partial sequence of KRT14 exon 1, showing in the upper panel the mutation c.427delC (red arrow) and in the lower panel the wild-type sequence. (h) Partial sequence of KRT14 exon 1, showing in the upper panel the mutation c.129dupC (red arrow) and in the lower panel the wild-type sequence. Journal of Investigative Dermatology 2006 126, 1912-1914DOI: (10.1038/sj.jid.5700312) Copyright © 2006 The Society for Investigative Dermatology, Inc Terms and Conditions