case_images: PMC10764103_01
case_images: Linear erythema and blisters on the trunk, limbs, and scalp presented in the proband (A,B). At 1.5 months, multiple typical skin lesions overlapped with linear erythema and blisters, verrucous hyperplasia, and hyperpigmentation (C). Hyperpigmented lesions in the proband at 5 months of age (D). Minor linear hyperpigmentation and hypopigmentation in both lower limbs (E), focal alopecia on the head (F), hypoplastic teeth (G), optic atrophy in the left eye (H) at 4 years of age.
case_images: fmed-10-1303590-g001.jpg
case_images: PMC10764103_02_fmed-10-1303590-g001.jpg
case_images: fig1
case_images: However, focal alopecia, hypoplastic teeth, optic atrophy in the left eye, and myopia persisted (Figures 1E-H).
case_images: Overlapping skin lesions of erythema and blisters, verrucous hyperplasia, and pigmentation on proband's sister (A), and verrucous hyperplasia and local alopecia on the scalp (B) at 1.5 months of age. Verrucous hyperplasia on the fingers (C) and recurrent erythema and blisters on the trunk (D) at 10 months of age.
case_images: fmed-10-1303590-g002.jpg
case_images: PMC10764103_02_fmed-10-1303590-g002.jpg
case_images: fig2
case_images: After 1 year, obvious verrucous hyperplastic lesions remained on the sister's fingers, and recurrent erythema and blisters on her trunk (Figures 2C,D), focal alopecia, and a suspicious retinal lesion in the right eye (Figure 2B) were observed.
case_images: Peak map of gene mutation sequencing in two families. In the first family, IKBKG c.832C>T in the proband (A), her sister (B), and her mother (C) (black arrow). No mutation at the same locus was detected in the father (D) (black arrow). A base repeat mutation IKBKG c.614_624dup was detected in the patient of the second family (the first arrow), and the repeat sequence (AGGGCCAGAGC) was shown (start from the second arrow), which generated frameshift mutation, namely, c.614_624dup (p.Val209Argfs*76) (E). No mutation was detected in the mother (F) and grandmother (G) in the second family.
case_images: fmed-10-1303590-g003.jpg
case_images: PMC10764103_02_fmed-10-1303590-g003.jpg
case_images: fig3
case_images: MLPA and Sanger sequencing of IKBKG gene were performed. Mutation c.614_624dup (p.Val209Argfs*76) in exon 5 of the IKBKG gene was detected in the patient, and no relevant gene mutations were detected in her mother or grandmother (Figures 3E-G).
case_images: PMC10764103_02
case_images: Linear erythema and blisters on the trunk, limbs, and scalp presented in the proband (A,B). At 1.5 months, multiple typical skin lesions overlapped with linear erythema and blisters, verrucous hyperplasia, and hyperpigmentation (C). Hyperpigmented lesions in the proband at 5 months of age (D). Minor linear hyperpigmentation and hypopigmentation in both lower limbs (E), focal alopecia on the head (F), hypoplastic teeth (G), optic atrophy in the left eye (H) at 4 years of age.
case_images: fmed-10-1303590-g001.jpg
case_images: PMC10764103_02_fmed-10-1303590-g001.jpg
case_images: fig1
case_images: However, focal alopecia, hypoplastic teeth, optic atrophy in the left eye, and myopia persisted (Figures 1E-H).
case_images: Overlapping skin lesions of erythema and blisters, verrucous hyperplasia, and pigmentation on proband's sister (A), and verrucous hyperplasia and local alopecia on the scalp (B) at 1.5 months of age. Verrucous hyperplasia on the fingers (C) and recurrent erythema and blisters on the trunk (D) at 10 months of age.
case_images: fmed-10-1303590-g002.jpg
case_images: PMC10764103_02_fmed-10-1303590-g002.jpg
case_images: fig2
case_images: After 1 year, obvious verrucous hyperplastic lesions remained on the sister's fingers, and recurrent erythema and blisters on her trunk (Figures 2C,D), focal alopecia, and a suspicious retinal lesion in the right eye (Figure 2B) were observed.
case_images: Peak map of gene mutation sequencing in two families. In the first family, IKBKG c.832C>T in the proband (A), her sister (B), and her mother (C) (black arrow). No mutation at the same locus was detected in the father (D) (black arrow). A base repeat mutation IKBKG c.614_624dup was detected in the patient of the second family (the first arrow), and the repeat sequence (AGGGCCAGAGC) was shown (start from the second arrow), which generated frameshift mutation, namely, c.614_624dup (p.Val209Argfs*76) (E). No mutation was detected in the mother (F) and grandmother (G) in the second family.
case_images: fmed-10-1303590-g003.jpg
case_images: PMC10764103_02_fmed-10-1303590-g003.jpg
case_images: fig3
case_images: MLPA and Sanger sequencing of IKBKG gene were performed. Mutation c.614_624dup (p.Val209Argfs*76) in exon 5 of the IKBKG gene was detected in the patient, and no relevant gene mutations were detected in her mother or grandmother (Figures 3E-G).
case_images: At 4 years old, the patient in the second family presented with linear hyperpigmentation on the trunk and limbs.
case_images: fmed-10-1303590-g004.jpg
case_images: PMC10764103_02_fmed-10-1303590-g004.jpg
case_images: fig4
case_images: In the second family, the patient was a 4 years-old girl with linear hyperpigmentation of the trunk and limbs distributed along Blaschko's lines (Figure 4).