Coexistence of multiple self-healing squamous epithelioma and features of Loeys-Dietz syndrome caused by a pathogenic missense variant in the kinase domain of TGFBR1

Clin Exp Dermatol. 2024 May 21;49(6):665-669. doi: 10.1093/ced/llad451.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Female
  • Humans
  • Loeys-Dietz Syndrome* / complications
  • Loeys-Dietz Syndrome* / genetics
  • Loeys-Dietz Syndrome* / pathology
  • Male
  • Mutation, Missense*
  • Receptor, Transforming Growth Factor-beta Type I* / genetics
  • Skin Neoplasms / genetics
  • Skin Neoplasms / pathology

Substances

  • TGFBR1 protein, human