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

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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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