Fig 2: Excerpt from BAM file showing homozygous G>A base change at position c.2015+5(NM_001127698 SPINK5 gene; Chr5(GRCh37):g.147494057G>A)

Fig 3: Histopathological and immunofluorescence analysis of control and patient's skin. Hematoxylin and eosin (H&E) staining of patient's skin shows hyperkeratosis, epidermal thickening, and reduction of the basophilic keratohyalin granules (40 µm). Immunofluorescence revealed no LEKTI signal in the individual carrying homozygous SPINK5 c.2015+5G>A variant (20 µm)