case_images: PMC11144849_01
case_images: Clinical manifestations and variants of SLC39A4 in patient 1 with AE. (A,B) Generalized pustules on the face and trunk prior to the treatment. (C) Heterozygous deletion of TGAGCCCAGGAGACTGAGCCCAGG in exon 9 and the adjoining intron 9 in patient 1 and his father. Heterozygous splicing variant c.1288-1G > A in intron 7 in patient 1 and his mother. (D,E) Marked relief of the lesions after 7 weeks of zinc supplementation.
case_images: fmed-11-1399511-g001.jpg
case_images: PMC11144849_01_fmed-11-1399511-g001.jpg
case_images: fig1
case_images: Physical examination revealed erythema, papules, pustules, crusts and scars on the face, trunk and periorificial region (Figures 1A,B). A, respectively (Figure 1C). Thus, the diagnosis of AE was established. After 7 weeks of continuous treatment with a single oral zinc sulfate (50 mg three times daily), his skin lesions almost completely disappeared (Figures 1D,E) and the serum level of alkaline phosphatase increased to 90 IU/L.
case_images: Clinical findings and the variant of SLC39A4 in patient 2 with AE. (A) Pedigree of the Chinese Yi family of patient 2. (B-D) Erythema and crusted lesions in the periorificial region and extensor surface of the knees. (E) Homozygous missense variant of c.295G > A in exon 2 of patient 2 and heterozygous variant for her parents.
case_images: fmed-11-1399511-g002.jpg
case_images: PMC11144849_01_fmed-11-1399511-g002.jpg
case_images: fig2
case_images: The patient was a girl aged 1 year and 10 months, the fourth child of second-degree consanguineous parents with Yi ethnicity (Figure 2A; IV: 4). Her older brother had a history of similar lesions and alopecia, but had already died at the age of 3 years (Figure 2A; IV: 3). Physical examination revealed well-demarcated erythema and crusts on her hands, feet, extensor surface of the knees and in the perioral, periocular, perigenital, and perianal regions (Figures 2B-D). Sanger sequencing analysis showed the patient carried a homozygous c.295G > A (p.Ala99Thr) in exon 2 of SLC39A4 (RefSeq NM_130849.4) (Figure 2E).
case_images: (A,B) Clinical findings of patient 3 showed well-demarcated erythema and crusted lesions in the neck, feet, periorificial region, and flexor surface of the lower legs. (C) Heterozygous deletion of AGACTGAGCCCAGG in exon 9 and the adjoining intron 9 of SLC39A4 in patient 3 and his mother. Heterozygous frame-shift variant of c.1110insG in exon 6 of SLC39A4 in patient 3 and his father. (D) Homozygous frame-shift variant of c.1110insG in exon 6 of SLC39A4 in patient 4.
case_images: fmed-11-1399511-g003.jpg
case_images: PMC11144849_03_fmed-11-1399511-g003.jpg
case_images: fig3
case_images: Sanger sequencing of all exons and their flanking intronic regions of SLC39A4 (RefSeq NM_130849.4) identified a homozygous c.1110insG variant in the patient (Figure 3D).
case_images: PMC11144849_02
case_images: (A,B) Clinical findings of patient 3 showed well-demarcated erythema and crusted lesions in the neck, feet, periorificial region, and flexor surface of the lower legs. (C) Heterozygous deletion of AGACTGAGCCCAGG in exon 9 and the adjoining intron 9 of SLC39A4 in patient 3 and his mother. Heterozygous frame-shift variant of c.1110insG in exon 6 of SLC39A4 in patient 3 and his father. (D) Homozygous frame-shift variant of c.1110insG in exon 6 of SLC39A4 in patient 4.
case_images: fmed-11-1399511-g003.jpg
case_images: PMC11144849_03_fmed-11-1399511-g003.jpg
case_images: fig3
case_images: Sanger sequencing of all exons and their flanking intronic regions of SLC39A4 (RefSeq NM_130849.4) identified a homozygous c.1110insG variant in the patient (Figure 3D).
case_images: PMC11144849_03
case_images: (A,B) Clinical findings of patient 3 showed well-demarcated erythema and crusted lesions in the neck, feet, periorificial region, and flexor surface of the lower legs. (C) Heterozygous deletion of AGACTGAGCCCAGG in exon 9 and the adjoining intron 9 of SLC39A4 in patient 3 and his mother. Heterozygous frame-shift variant of c.1110insG in exon 6 of SLC39A4 in patient 3 and his father. (D) Homozygous frame-shift variant of c.1110insG in exon 6 of SLC39A4 in patient 4.
case_images: fmed-11-1399511-g003.jpg
case_images: PMC11144849_03_fmed-11-1399511-g003.jpg
case_images: fig3
case_images: Sanger sequencing of all exons and their flanking intronic regions of SLC39A4 (RefSeq NM_130849.4) identified a homozygous c.1110insG variant in the patient (Figure 3D).