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

Novel nicastrin mutation in hidradenitis suppurativa-Dowling Degos disease clinical phenotype: more than just clinical overlap? Br J Dermatol. 2020 Apr 13;: Authors: Garcovich S, Tricarico PM, Meddour CN, Giovanardi G, Peris K, Crovella S, Boniotto M 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. PMID: 32282940 [PubMed - as supplied by publisher]
Source: The British Journal of Dermatology - Category: Dermatology Authors: Tags: Br J Dermatol Source Type: research