Novel nicastrin mutation in hidradenitis suppurativa-Dowling Degos disease clinical phenotype: more than just clinical overlap?

Simone Garcovich, Ketty Peris, Giulia Giovanardi, P. M. Tricarico, C. Nait-Meddour, S. Crovella, M. Boniotto

Research output: Contribution to journalArticlepeer-review

6 Citations (Scopus)

Abstract

In familial hidradenitis suppurativa (HS), mutations in the genes encoding three subunits of the ‐secretase complex, PSEN1, PSENEN and NCSTN, have pointed to an impaired NOTCH signalling as a pathogenic disease mechanism.1 Dowling Degos Disease (DDD; MIM 179850, 615327, and 615696)―a rare reticulated pigmentary disorder― has also been associated with a deficient NOTCH signalling and patients with mutations in PSENEN suffering from both disorders seem to confirm a potential link between two apparently different conditions.
Original languageEnglish
Pages (from-to)N/A-N/A
JournalBritish Journal of Dermatology
Volume2020
DOIs
Publication statusPublished - 2020

Keywords

  • dowling degos disease
  • genetics
  • hidradenitis suppurativa
  • nicastrin

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