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.
Garcovich, S., Tricarico, P. M., Meddour, C. N., Giovanardi, G., Peris, K., Crovella, S., Boniotto, M., Novel nicastrin mutation in hidradenitis suppurativa-Dowling Degos disease clinical phenotype: more than just clinical overlap?, <<BRITISH JOURNAL OF DERMATOLOGY>>, N/A; 2020 (N/A): N/A-N/A. [doi:10.1111/bjd.19121] [http://hdl.handle.net/10807/155124]
Novel nicastrin mutation in hidradenitis suppurativa-Dowling Degos disease clinical phenotype: more than just clinical overlap?
Garcovich, Simone;Giovanardi, Giulia;Peris, Ketty;
2020
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.
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