PMC9948685_01
Characteristic dysmorphic facies of our patient with Kabuki Syndrome
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FIG1
This mutation has led to dysmorphic facial features (Figure 1), developmental delay, imperforate anus with recto-vestibular fistula, gastrointestinal malrotation, gastric reflux, feeding difficulties, pulmonary hypertension, coarctation of the aorta, left aortic arch with aberrant right subclavian artery, mitral stenosis, bicuspid aortic valve, ventricular septal defect, left hydronephrosis, right renal dysplasia, chronic otitis media, bilateral hearing loss, and congenital dislocation of the right hip.
Depigmented macules and patches on the patient's trunk
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FIG2
Upon examination, there are many coalescing depigmented patches on the patient's neck, trunk, and extremities (Figures 2-4).
Depigmented macules and patches on the patient's upper extremities
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FIG3
Upon examination, there are many coalescing depigmented patches on the patient's neck, trunk, and extremities (Figures 2-4).
Depigmented macules and patches on the patient's lower extremities
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FIG4
Upon examination, there are many coalescing depigmented patches on the patient's neck, trunk, and extremities (Figures 2-4).
Accentuated depigmented macules and patches under Wood's lamp
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FIG5
Under a Wood's lamp, the patches accentuate, revealing lesions with sharp borders and a bright blue-white fluorescence (Figure 5).
Depigmented macules and patches on the patient's trunk at four-month follow-up
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FIG6
At a four-month follow-up visit, there was no improvement in the vitiligo lesions (Figures 6-8).
Depigmented macules and patches on the patient's lower extremities at four-month follow-up
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FIG7
At a four-month follow-up visit, there was no improvement in the vitiligo lesions (Figures 6-8).
Depigmented macules and patches on the patient's upper extremities at four-month follow-up
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FIG8
At a four-month follow-up visit, there was no improvement in the vitiligo lesions (Figures 6-8).