Article
A loss-of-function NCSTN mutation associated with familial Dowling Degos disease and hidradenitis suppurativa.
Experimental dermatology - 1 Nov 2023
de Oliveira Ana Sofia Lima Estevao, de Siqueira Roberta Cardoso, Nait-Meddour Cécile, Tricarico Paola Maura, Moura Ronald, Agrelli Almerinda, d'Adamo Adamo Pio, Jamain Stéphane, Crovella Sergio, de Fátima Medeiros Brito Maria, Boniotto Michele, Brandão Lucas André Cavalcanti
Abstract excerpt
Dowling Degos disease (DDD) is a rare autosomal dominant genodermatosis characterized by acquired, slowly progressive reticulated pigmented lesions primarily involving flexural skin areas. Mutations in KRT5, POGLUT-1 and POFUT-1 genes have been associated with DDD, and loss-of-function mutations in PSENEN, a subunit of the gamma-secretase complex, were found in patients presenting with DDD or DDD comorbid with...
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