Scrotal Dowling-Degos disease caused by a novel frameshift variant in gamma-secretase subunit presenile enhancer gene

Australas J Dermatol. 2020 Nov;61(4):e399-e402. doi: 10.1111/ajd.13316. Epub 2020 Jun 1.

Abstract

We reported a Chinese pedigree with scrotal Dowling-Degos disease and evaluated the phenotypic and genotypic characteristics. In affected cases, pigmented macules were identified on the scrotum. The rashes increased, and the colour deepened progressively. No pain or pruritus were noticed, and no other skin folds were involved. Skin histopathology showed characteristic features of Dowling-Degos disease. A heterozygous PSENEN frameshift variant c.292delC（p.L98Wfs*47） was identified in affected cases. The variant was not found in dbSNP, 1000 Genomes project database and the ExAC Browser. The p.L98 and adjacent amino acids are highly conserved among species. Our cases expand the phenotypic and genotypic spectrum of PSENEN-related Dowling-Degos disease.

Keywords: Dowling-Degos disease; PSENEN gene; sequence variant.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amyloid Precursor Protein Secretases / genetics*
  • Asian People
  • China
  • Frameshift Mutation*
  • Humans
  • Hyperpigmentation / genetics*
  • Male
  • Membrane Proteins / genetics*
  • Scrotum
  • Skin Diseases, Genetic / genetics*
  • Skin Diseases, Papulosquamous / genetics*

Substances

  • Membrane Proteins
  • PSENEN protein, human
  • Amyloid Precursor Protein Secretases

Supplementary concepts

  • Dowling-Degos Disease