Cohen syndrome coincident with epidermolytic palmoplantar keratoderma caused by novel KRT9 gene mutation: A rare case report

Asian J Surg. 2023 Dec;46(12):5909-5910. doi: 10.1016/j.asjsur.2023.08.206. Epub 2023 Sep 9.
No abstract available

Keywords: Cohen syndrome; Epidermolytic palmoplantar keratoderma; Genetic mutation; KRT9 gene; VPS13B gene.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Developmental Disabilities
  • Fingers / abnormalities
  • Humans
  • Intellectual Disability*
  • Keratin-9 / genetics
  • Keratoderma, Palmoplantar, Epidermolytic* / complications
  • Keratoderma, Palmoplantar, Epidermolytic* / genetics
  • Microcephaly*
  • Muscle Hypotonia
  • Mutation
  • Myopia
  • Obesity
  • Retinal Degeneration

Substances

  • KRT9 protein, human
  • Keratin-9

Supplementary concepts

  • Cohen syndrome