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Novel nicastrin mutation in hidradenitis suppurativa–Dowling–Degos disease clinical phenotype: more than just clinical overlap?
Author(s) -
Garcovich S.,
Tricarico P.M.,
NaitMeddour C.,
Giovanardi G.,
Peris K.,
Crovella S.,
Boniotto M.
Publication year - 2020
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/bjd.19121
Subject(s) - hidradenitis suppurativa , nicastrin , phenotype , clinical phenotype , medicine , mutation , dermatology , disease , genetics , biology , pathology , gene , presenilin , alzheimer's disease
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. 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.