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. 2020 Jan 13;130(2):890–903. doi: 10.1172/JCI130675

Figure 1. Changes in SDR9C7 expression and major changes in ceramides in the patient’s skin.

Figure 1

(A) Thin shiny scales on the lower leg are observed. (B) A biopsy sample from the ichthyotic skin of the proband shows marked compact hyperkeratosis, which suggests deficiency of the intercellular lipid layers in the stratum corneum. In contrast, the stratum corneum of the normal control skin shows a basket-weave pattern. Scale bars = 20 μm. (C) Immunohistochemistry of the lesional skin with an anti–SDR9C7 antibody. The staining intensity is strongly reduced in the patient’s skin compared with the skin from a healthy control. Scale bars = 50 μm. (D and E) Total ceramide levels in tape-stripped samples of epidermis are within the normal range in the patient compared with her parents and the normal controls (n = 8). Data represent mean ± SEM. (F and G) Individual ceramide species showed minor differences in the patient’s forearm and upper arm, with the notable exception of CerEOS, 200%–280% elevated in the patient’s epidermis. (H and I) By contrast, ceramides covalently bound to protein were severely reduced in the patient’s skin compared with the parents and controls (n = 8). Data represent mean ± SEM.