case_images: PMC10890808_01
case_images: a, b Erythematosquamous plaques covered by large yellowish scales on the extensor surface of the upper limbs, thorax, and thighs. c Brittle hair and severe desquamation of the face and scalp. d Trichoscopy: hair shafts changes type trichorrhexis invaginata (3Gen DermLite DL4, with polarized light, magnification x10).
case_images: cde-2024-0016-0001-536083_F01.jpg
case_images: PMC10890808_01_cde-2024-0016-0001-536083_F01.jpg
case_images: F1
case_images: Well-contoured, erythematosquamous plaques covered by large yellowish scales on the extensor surface of the upper limbs, the thighs, and the posterior surface of the lower legs were detected (Fig. 1a, b). The child had fragile and brittle hair (Fig. 1c). Trichoscopy of the scalp revealed hair shaft changes typical for trichorrhexis invaginata (TI) (Fig. 1d).
case_images: Histopathological examination of the skin: hyperkeratosis with parakeratosis and psoriasiform epidermal hyperplasia (H&E, magnification x25).
case_images: cde-2024-0016-0001-536083_F02.jpg
case_images: PMC10890808_01_cde-2024-0016-0001-536083_F02.jpg
case_images: F2
case_images: Histopathological examination of the skin showed hyperkeratosis with parakeratosis and psoriasiform epidermal hyperplasia (Fig. 2).
case_images: a Integrative Genomics Viewer (IGV) visualization of the pathogenic variant c.1530C>A p.(Cys510Ter) (NM _006846) in the proband. b Integrative Genomics Viewer (IGV) visualization of the likely pathogenic variant c.420del p.(Ser141ProfsTer5) (NM _006846) in the proband.
case_images: cde-2024-0016-0001-536083_F03.jpg
case_images: PMC10890808_01_cde-2024-0016-0001-536083_F03.jpg
case_images: F3
case_images: The first one was pathogenic variant c.1530C>A (p.Cys510Ter) (NM_006846) and is shown in Figure 3a. The second likely pathogenic c.420del (p.Ser141ProfsTer5) (NM_006846) is shown in Figure 3b.