Features of multiple self-healing squamous epithelioma and Loeys-Dietz syndrome in a patient with a novel TGFBR1 variant

Am J Med Genet A. 2018 Dec;176(12):2892-2895. doi: 10.1002/ajmg.a.40652. Epub 2018 Dec 4.

Abstract

Multiple self-healing squamous epithelioma (MSSE, Ferguson-Smith disease) and Loeys-Dietz syndrome (LDS) are allelic conditions associated with pathogenic variants in the transforming growth factor beta receptor 1 gene (TGFBR1). We describe a patient with a novel missense variant in this gene: c.664G > A, p.[Gly222Arg], who clinically presents with both syndromes. The patient also has a history of gastric antral vascular ectasia, which has not been reported previously in LDS.

Keywords: Ferguson-Smith disease; Loeys-Dietz syndrome; TGFBR1; multiple self-healing squamous epithelioma.

Publication types

  • Case Reports

MeSH terms

  • Alleles
  • Amino Acid Substitution
  • Carcinoma / diagnosis*
  • Carcinoma / genetics*
  • DNA Mutational Analysis
  • Genetic Variation*
  • Genotype
  • Humans
  • Keratoacanthoma / diagnosis*
  • Keratoacanthoma / genetics*
  • Loeys-Dietz Syndrome / diagnosis*
  • Loeys-Dietz Syndrome / genetics*
  • Male
  • Middle Aged
  • Mutation
  • Mutation, Missense
  • Receptor, Transforming Growth Factor-beta Type I / genetics*
  • Tomography, X-Ray Computed

Substances

  • Receptor, Transforming Growth Factor-beta Type I

Supplementary concepts

  • Keratoacanthoma familial