PMC10182818_01
Typical yellow blisters on the infant's skin (see arrow).
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Among them, the two upper limbs were the weight, and several skin damages were observed together (See Figure 1).
Cranial magnetic resonance imaging.
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Head magnetic resonance imaging (MRI) showed multiple blood lesions in the brain (Figure 2).
Fundus photography showed incomplete peripheral vascularization and foveal hypoplasia (A) Left eye; (B) right eye).
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To further clarify and seek sufficient evidence, the patient was examined by a wide-angle digital retinal imaging system, suggesting that fundus fluorescein angiography showed fundus vascular loop-like changes, consistent with the fundus vascular manifestations of pigmented incontinence (Figure 3).
Anatomopathological exam of yellow blisters (hematoxylin-eosin stained, originalx400).
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In the meantime, the patient underwent skin biopsy, which showed that more eosinophils were aggregated in the epidermis, a small number of dyskeratocytes were scattered in the surrounding epidermis, and a small number of eosinophils and lymphocytes were infiltrated in the superficial dermis (Figure 4).
Mutational analysis of the IKBKG gene with PCR analysis of blood samples. Lane 1, Marker; Lane 2, IKBKG deletion exon 4-10 control; Lane 3, patient; The IKBKG deletion was detected. Lanes 4 and 5 are the father and mother. Lanes 6, big sister; Lanes 7, healthy control.
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The results suggested that the patient had a heterozygous loss in exons 4-10 of the IKBKG gene, but the parents and older sister were normal (Figure 5).