case_images: PMC11310039_01
case_images: Clinical imaging.
case_images: fendo-15-1418254-g001.jpg
case_images: PMC11310039_01_fendo-15-1418254-g001.jpg
case_images: f1
case_images: Children's Hospital for a blackish nodule on the medial side of her left lower lip ( Figure 1 ). Currently, the patient presents with prominent skin lesions and exhibits ocular abnormalities including photophobia, tearing, occasional redness, and discharge. Dermatologically, a black nodule measuring approximately 0.3cm x 0.2cm under the right nostril, 0.5 cm x 0.5 cm on the lower lip, and another one measuring about 0.3 cm x 0.2 cm on left of the patient's face ( Figure 1 ) were visible respectively.
case_images: Sanger chromatogram demonstrating relevant mutations in XPA.
case_images: fendo-15-1418254-g002.jpg
case_images: PMC11310039_01_fendo-15-1418254-g002.jpg
case_images: f2
case_images: Figure 2 ). Further Sanger sequencing was performed on the patient's parents and brother.