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Fig. 3 | BMC Medical Genomics

Fig. 3

From: First case report of complete paternal isodisomy of chromosome 10 harbouring a novel variant in COL17A1 that causes junctional epidermolysis bullosa intermediate

Fig. 3

Histopathological analyses and ultrastructural features of the proband. A and D. Haematoxylin–Eosin staining of the skin tissue of the proband A and normal control tissue D of the proband. The connection between the dermis and epidermis was loosened, the interdermal cracks were enlarged and blisters had formed. B and E. immunofluorescence images of the proband B and a normal control E. Collagen XVII was linearly distributed between the dermis and epidermis of the normal control skin E, but the proband’s skin displayed Collagen XVII deficiency in the basal keratinocytes (B). The immunofluorescence figures were merged by the images captured at a magnification of 100× using ultraviolet filter and FITC filter. C and F. TEM showed the hemidesmosomes (arrows) were of lower density, had atypical structures and were decreased in number

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BMC Medical Genomics

ISSN: 1755-8794

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