Expanding the spectrum of γ-secretase gene mutation-associated phenotypes: two novel mutations segregating with familial hidradenitis suppurativa (acne inversa) and acne conglobata

Exp Dermatol. 2016 Apr;25(4):314-6. doi: 10.1111/exd.12911. Epub 2016 Feb 11.
No abstract available

Keywords: acne conglobata; acne inversa; hidradenitis suppurativa; mutations; γ-secretase.

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acne Conglobata / diagnosis
  • Acne Conglobata / genetics*
  • Amyloid Precursor Protein Secretases / genetics*
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Frameshift Mutation
  • Gene Expression Profiling
  • Genetic Association Studies
  • Hidradenitis Suppurativa / diagnosis
  • Hidradenitis Suppurativa / genetics*
  • Humans
  • Male
  • Membrane Glycoproteins / genetics*
  • Mutation*
  • Phenotype
  • Receptors, Notch / metabolism

Substances

  • Membrane Glycoproteins
  • Receptors, Notch
  • nicastrin protein
  • Amyloid Precursor Protein Secretases

Supplementary concepts

  • Hidradenitis suppurativa, familial