First nicastrin mutation in PASH (pyoderma gangrenosum, acne and suppurative hidradenitis) syndrome

Br J Dermatol. 2015 Aug;173(2):610-2. doi: 10.1111/bjd.13668. Epub 2015 Jun 11.
No abstract available

Publication types

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

MeSH terms

  • Acne Vulgaris / diagnosis
  • Acne Vulgaris / genetics*
  • Adaptor Proteins, Signal Transducing / genetics
  • Adolescent
  • Amyloid Precursor Protein Secretases / genetics*
  • Arthritis, Infectious / diagnosis
  • Arthritis, Infectious / genetics
  • Child
  • Cytoskeletal Proteins / genetics
  • Diagnosis, Differential
  • Hidradenitis Suppurativa / genetics*
  • Humans
  • Male
  • Membrane Glycoproteins / genetics*
  • Mutation / genetics*
  • Pedigree
  • Pyoderma Gangrenosum / diagnosis
  • Pyoderma Gangrenosum / genetics*
  • Syndrome

Substances

  • Adaptor Proteins, Signal Transducing
  • Cytoskeletal Proteins
  • Membrane Glycoproteins
  • PSTPIP1 protein, human
  • nicastrin protein
  • Amyloid Precursor Protein Secretases

Supplementary concepts

  • Pyogenic arthritis, pyoderma gangrenosum, and acne