case_images: PMC11745274_01
case_images: Physical examination and histopathology image. (A) Bilateral linear keratotic lesions at dorsum of metacarpophalangeal joints and right wrist. (B) Bilateral palmar keratoderma with "honeycomb" appearance. (C) Pseudoainhum at third and fourth toes. (D) Bilateral dorsal feet starfish-shaped keratotic lesions. (E) Orthokeratotic hyperkeratosis. (Hematoxylin & eosin, x100).
case_images: gr1.jpg
case_images: PMC11745274_01_gr1.jpg
case_images: fig0005
case_images: The physical examination revealed palmoplantar hyperkeratosis with a honeycomb appearance, and bilateral linear and starfish-shaped keratotic lesions on the dorsum of his feet and the metacarpophalangeal joints (Fig. 1). Histopathological analysis from his elbow plaque revealed orthokeratotic hyperkeratosis (Fig. 1).
case_images: Mutation in the GJB2 gene in sporadic case of Vohwinkel syndrome presented in this report by direct sequencing of GJB2 in our patient showing a heterozygous state of the mutation c.175G>A (p. Gly59Ser) in exon 2.
case_images: gr2.jpg
case_images: PMC11745274_01_gr2.jpg
case_images: fig0010
case_images: GJB2 gene, c.175G>A (p. Gly59Ser) in a heterozygous state (Fig. 2).