{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T04:20:29Z","timestamp":1790742029574,"version":"4.1.0"},"reference-count":10,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2020,8,17]],"date-time":"2020-08-17T00:00:00Z","timestamp":1597622400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Dowling\u2013Degos disease (DDD) is a rare autosomal\u2010dominant genodermatosis and it has been associated with hidradenitis suppurativa (HS). Deregulation of <jats:italic>NOTCH<\/jats:italic> pathway has been linked to the development of HS in DDD context (DDD\u2010HS). However, molecular alterations in DDD\u2010HS, including altered gene expression of <jats:italic>NOTCH<\/jats:italic> and downstream effectors that are involved in the follicular differentiation and inflammatory response, are poorly defined. We report two cases of patients diagnosed with DDD\u2010HS, one of those, under Adalimumab treatment. Our results have shown downregulation of <jats:italic>NOTCH1\/NCSTN<\/jats:italic> pathway, distinct molecular profiles of inflammatory cytokines (<jats:italic>IL23A<\/jats:italic> and <jats:italic>TNF<\/jats:italic>), and a novel aberrant upregulation of genes involved in the cornified envelope (CE) formation (<jats:italic>SPRR1B<\/jats:italic>, <jats:italic>SPRR2D<\/jats:italic>, <jats:italic>SPRR3,<\/jats:italic> and <jats:italic>IVL<\/jats:italic>) in paired HS lesions of two DDD patients.<\/jats:p>","DOI":"10.1002\/ajmg.a.61800","type":"journal-article","created":{"date-parts":[[2020,8,28]],"date-time":"2020-08-28T03:14:25Z","timestamp":1598584465000},"page":"2662-2665","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["The deregulation of <scp><i>NOTCH<\/i><\/scp> pathway, inflammatory cytokines, and keratinization genes in two <scp>Dowling\u2013Degos<\/scp> disease patients with hidradenitis suppurativa"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2847-1993","authenticated-orcid":false,"given":"Ricardo","family":"Cortez Cardoso Penha","sequence":"first","affiliation":[{"name":"Molecular Carcinogenesis Program, Brazilian National Cancer Institute (INCA)  Rio de Janeiro Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita Fernanda","family":"Cortez de Almeida","sequence":"additional","affiliation":[{"name":"Department of Dermatology Federal Hospital of Bonsucesso  Rio de Janeiro Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliana","family":"C\u00e2mara Mariz","sequence":"additional","affiliation":[{"name":"Department of Dermatology State University of Rio de Janeiro (UERJ)  Rio de Janeiro Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lilian","family":"Brewer Lisboa","sequence":"additional","affiliation":[{"name":"Molecular Carcinogenesis Program, Brazilian National Cancer Institute (INCA)  Rio de Janeiro Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L\u00edvia","family":"do Nascimento Barbosa","sequence":"additional","affiliation":[{"name":"Department of Dermatology Federal Hospital of Bonsucesso  Rio de Janeiro Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Souto da Silva","sequence":"additional","affiliation":[{"name":"Department of Dermatology State University of Rio de Janeiro (UERJ)  Rio de Janeiro Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,8,17]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-3225"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61362"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.14371"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-018-05936-5"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/exd.12098"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-3066"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI90667"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2008.73"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.18445"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.16264"}],"container-title":["American Journal of 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