case_images: PMC10946671_01
case_images: (A) Dark brown papules and plates on the face, broad confluent eyebrows, a broad base of the nose, and frontal bossing. (B,C) Dry, rough, and keratinized skin on both hands and feet, dark brown great toenails on bilateral feet. (D,E) Multiple pigmented nevi on the back and thighs.
case_images: fmed-11-1327505-g001.jpg
case_images: PMC10946671_01_fmed-11-1327505-g001.jpg
case_images: fig1
case_images: A 56-year-old woman presented to our dermatological department with dark brown papules and plates measuring 1-3 cm in diameter and located on the patient's face, some of which showed a broken and scabbed surface (Figure 1A). The skin of both hands and feet was dry, rough, and showed keratosis, and the toenails of both feet were dark brown (Figures 1B,C). Multiple pigmented nevi were observed on the back and thighs (Figures 1D,E).
case_images: (A) Dermoscopy at a 50-fold magnification showed many irregularly distributed blue-gray spots and small balls, bright white stripes, oval nests, and linear branching of blood vessels. (B) The proliferation of basaloid cells and retraction artifacts (HE x100). (C) Calcification of the falx cerebri (1) and tentorium cerebelli (2), and mega cisterna magna. (D) bifid thoracic ribs:Second (1), sixth (2), and seventh (3) anterior ribs on the left side.
case_images: fmed-11-1327505-g002.jpg
case_images: PMC10946671_01_fmed-11-1327505-g002.jpg
case_images: fig2
case_images: Dermoscopy showed many irregularly distributed blue-gray spots and small balls, bright white stripes, oval nests, and linear branching of blood vessels (Figure 2A). The loose tumor stroma showed retraction artifacts (Figure 2B). Radiological examination revealed calcification of the falx cerebri and tentorium cerebelli, scoliosis, bifid thoracic ribs, and mega cisterna magna (Figures 2C,D).
case_images: (A) Exon 9 of wild-type PTCH1. (B) A frameshift mutation in exon 9 of PTCH1. (C) Wild-type PTCH1 protein structure models. (D) Mutant PTCH1 protein structure models.
case_images: fmed-11-1327505-g003.jpg
case_images: PMC10946671_01_fmed-11-1327505-g003.jpg
case_images: fig3
case_images: The results of gene panel sequencing showed a frameshift mutation in exon 9 of PTCH1 (Figures 3A,B) (NM_000264: c.1312dupA:p.Ser438Lysfs). The spatial structure of the PTCH1 mutant was significantly different from that of the wild-type PTCH1 (Figures 3C,D).