PMC9168653_01
Clinical images showing demarcated, annular, red-brown plaques over the extensor side of right lower limb (A), lumbar region (B), and right side of the patient's chest (C).
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PMC9168653_01_fgene-13-797124-g001.jpg
F1
The proband was a 6-year-old girl with demarcated annular red-brown plaques of variable sizes and colors spreading over the extensor side of right lower limb (Figure 1A), the right side of her chest (Figure 1B) and lumbar region (Figure 1C).
The pedigree of the family (A) and WES results of the proband (B), her mother (C) and her father (D). (A) The arrow indicates the proband. Black means EKV. The green one has NSHL and the blue one has ichthyosis. (B,C) The proband and her mother have a heterogenous missense mutation of c. 293G>A in GJB3. (D) The proband's father has no mutation (c. 293G) in GJB3.
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PMC9168653_01_fgene-13-797124-g002.jpg
F2
The pedigree is shown in Figure 2A.