case_images: PMC11034508_01
case_images: Physical examination revealed beaded papules on the upper eyelid margin (A), disordered arrangement of teeth and gingival hyperplasia (B), diffused atrophic scar on the whole body (C), and brownish-yellow plaques on both knees (D), clustered light yellow oval structureless area on the upper eyelids (dermoscopy) (E), verrucous, keratinized, proliferative lesions around the nails (F).
case_images: CCID-17-885-g0001.jpg
case_images: PMC11034508_01_CCID-17-885-g0001.jpg
case_images: f0001
case_images: During physical examination, beaded papules were observed along the upper eyelid margin (Figure 1A), accompanied by disordered arrangement of teeth and gingival hyperplasia (Figure 1B). Diffuse atrophic scars covered his entire body (Figure 1C), while brownish-yellow plaques were present on both knees (Figure 1D). Dermoscopy revealed clustered light yellow oval structureless areas on the upper eyelids (Figure 1E), as well as verrucous keratinized proliferative lesions around the nails (Figure 1F).
case_images: Mutational analysis of this family. The red arrows indicate the mutation sites. The c.317_339delTCCCTCAGGAAGCTGTCCCCCTC:p.Leu106Profs*12 frameshift variant in ECM1 in exon 5 of the proband and his father (A); there was no mutation in his mother (B); c.479G>A:p. Trp160X nonsense variant in ECM1 in exon 6 of the proband and his mother (C); no mutation was detected in his father (D).
case_images: CCID-17-885-g0002.jpg
case_images: PMC11034508_01_CCID-17-885-g0002.jpg
case_images: f0002
case_images: In both the proband and his father (Figure 2A and B), a novel frameshift variant designated as c.317_339delTCCCTCAGGAAGCTGTCCCCCTC was identified in exon 5, resulting in a Leu106Profs*12 amino acid change that introduced a frameshift and produced an aberrant ECM1 protein. Furthermore, in the proband and his mother (Figure 2C and D), a nonsense variant designated as c.479G>A was detected in exon 6 leading to a Trp160X amino acid change that prematurely truncated the protein by introducing a stop codon at position 160.