• Holistic health record for Hidradenitis suppurativa patients. 

      Tricarico, Paola Maura; Moltrasio, Chiara; Gradišek, Anton; Marzano, Angelo V; Flacher, Vincent; ... more authors ( Nature Research , 2022 , Article)
      Hidradenitis suppurativa (HS) is a recurrent inflammatory skin disease with a complex etiopathogenesis whose treatment poses a challenge in the clinical practice. Here, we present a novel integrated pipeline produced by ...
    • A loss-of-function NCSTN mutation associated with familial Dowling Degos disease and hidradenitis suppurativa 

      de Oliveira, Ana Sofia Lima Estevao; de Siqueira, Roberta Cardoso; Nait-Meddour, Cécile; Tricarico, Paola Maura; Moura, Ronald; ... more authors ( Wiley , 2023 , Article)
      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 ...
    • A rare loss-of-function genetic mutation suggest a role of dermcidin deficiency in hidradenitis suppurativa pathogenesis 

      Tricarico, Paola Maura; Gratton, Rossella; Santos-Silva, Carlos André dos; Moura, Ronald Rodrigues de; Ura, Blendi; ... more authors ( Frontiers Media , 2022 , Article)
      Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease with a multifactorial aetiology that involves a strict interplay between genetic factors, immune dysregulation and lifestyle. Familial forms represent ...