PMC10213322_01
(A, B) Patient at 4 months of age with inflammatory blisters with Blaschko's lines on the extremities. (C, D) Patient at 6 months of age with warty papules and hyperpigmentation. (E, F) At 19 months of age, the patient has few residual verrucous growths on the extremities, and the residual pigmentation is gradually fading. (G, H) Skin symptoms largely resolved by the time the patient was 2 years old.
fmed-10-1164394-g0001.jpg
PMC10213322_02_fmed-10-1164394-g0001.jpg
F1
The patient's skin condition continued to improve during this period, and by the age of 2 years, the skin discoloration had substantially subsided (Figure 1).
PMC10213322_02
(A, B) Patient at 4 months of age with inflammatory blisters with Blaschko's lines on the extremities. (C, D) Patient at 6 months of age with warty papules and hyperpigmentation. (E, F) At 19 months of age, the patient has few residual verrucous growths on the extremities, and the residual pigmentation is gradually fading. (G, H) Skin symptoms largely resolved by the time the patient was 2 years old.
fmed-10-1164394-g0001.jpg
PMC10213322_02_fmed-10-1164394-g0001.jpg
F1
The patient's skin condition continued to improve during this period, and by the age of 2 years, the skin discoloration had substantially subsided (Figure 1).
Microscopic examination showed eosinophils infiltrating the dermis and vesicles.
fmed-10-1164394-g0002.jpg
PMC10213322_02_fmed-10-1164394-g0002.jpg
F2
In light of the specific cutaneous clinical presentation, we performed a skin biopsy, which revealed subtle spongiosis with scattered eosinophilic infiltration in the lower epidermis and at the dermal/epidermal junction (Figure 2).
The individual exons of the patient's IKBKG gene were detected using the multiple ligation-dependent probe amplification (MLPA), with the DNA from normal individuals serving as a reference, thereby enabling the identification of deletions and duplication mutations in the gene. Quantitative MLPA plots show the individual exons on the horizontal axis and the ratio to normal female subjects on the vertical axis.
fmed-10-1164394-g0003.jpg
PMC10213322_02_fmed-10-1164394-g0003.jpg
F3
Sanger sequencing (data not shown). Subsequently, we used multiple ligation-dependent probe amplification (MLPA) (P073-A1; MRC-Holland, Amsterdam, The Netherlands), which revealed a deletion mutation in exons 4-10 of IKBKG (Figure 3) and performed a long PCR to verify the positive results of MLPA and to eliminate the potential interference of pseudogenes (Figure 4).
Relative to the positive control indicated by the red arrow. Long PCR with N2.1/JF3R and 3FH/JF3R primers revealed IP-specific 2.6-kb and 1.8-kb bands in patient samples, as indicated by the blue arrows. Conversely, the bands amplified with the IKBKGP-specific primer (JF3R/Rev2) showed no discernible specificity between patients and controls.
fmed-10-1164394-g0004.jpg
PMC10213322_02_fmed-10-1164394-g0004.jpg
F4
Sanger sequencing (data not shown). Subsequently, we used multiple ligation-dependent probe amplification (MLPA) (P073-A1; MRC-Holland, Amsterdam, The Netherlands), which revealed a deletion mutation in exons 4-10 of IKBKG (Figure 3) and performed a long PCR to verify the positive results of MLPA and to eliminate the potential interference of pseudogenes (Figure 4).