{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T20:02:58Z","timestamp":1787169778624,"version":"build-2736575974"},"reference-count":10,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:sec>\n                    <jats:title\/>\n                    <jats:p>\n                      Hidradenitis suppurativa is a chronic relapsing disease with multiple abscesses, nodules, and scars in the apocrine bearing areas. Dowling-Degos is a rare autosomal dominant genodermatosis characterized by multiple hyperpigmented macules or papules in reticulate pattern, affecting mainly the flexures. We report a case of coexisting hidradenitis suppurativa and Dowling-Degos disease in a 31-year-old male in whom\n                      <jats:italic toggle=\"yes\">PSENEN<\/jats:italic>\n                      mutation analysis revealed a splice site mutation c.62-1G&gt;T.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/idoj.idoj_218_20","type":"journal-article","created":{"date-parts":[[2021,11,16]],"date-time":"2021-11-16T09:15:00Z","timestamp":1637054100000},"page":"147-149","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":10,"title":["PSENEN Mutation in Coexistent Hidradenitis Suppurativa and Dowling-Degos Disease"],"prefix":"10.4103","volume":"12","author":[{"given":"Dincy C. V.","family":"Peter","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frances J. D.","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neil J.","family":"Wilson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sumita","family":"Danda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-23-20240828","doi-asserted-by":"crossref","first-page":"9","DOI":"10.4161\/derm.2.1.12490","article-title":"Comorbidities of hidradenitis suppurativa (acne inversa)","volume":"2","author":"Fimmel","year":"2010","journal-title":"Dermatoendocrinol"},{"key":"R2-23-20240828","doi-asserted-by":"crossref","first-page":"191","DOI":"10.4103\/2229-5178.115514","article-title":"Dowling-Degos disease and hidradenitis suppurativa: Co occurrence or association?","volume":"4","author":"Choudhary","year":"2013","journal-title":"Indian Dermatol Online J"},{"key":"R3-23-20240828","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1086\/500850","article-title":"Loss-of-function mutationsin the keratin 5 gene lead to Dowling-Degos disease","volume":"78","author":"Betz","year":"2006","journal-title":"Am J Hum Genet"},{"key":"R4-23-20240828","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1016\/j.ajhg.2013.04.022","article-title":"Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease","volume":"92","author":"Li","year":"2013","journal-title":"Am J Hum Genet"},{"key":"R5-23-20240828","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/j.ajhg.2013.12.003","article-title":"Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease","volume":"94","author":"Basmanav","year":"2014","journal-title":"Am J Hum Genet"},{"key":"R6-23-20240828","doi-asserted-by":"crossref","first-page":"1485","DOI":"10.1172\/JCI90667","article-title":"Mutations in \u03b3-secretase subunit\u2013encoding PSENEN underlie Dowling-Degos disease associated with acne inversa","volume":"127","author":"Ralser","year":"2017","journal-title":"J Clin Invest"},{"key":"R7-23-20240828","doi-asserted-by":"crossref","first-page":"1568","DOI":"10.1038\/jid.2011.42","article-title":"PSENEN and NCSTN mutations in familial hidradenitis suppurativa (Acne Inversa)","volume":"131","author":"Pink","year":"2011","journal-title":"J Invest Dermatol"},{"key":"R8-23-20240828","doi-asserted-by":"crossref","first-page":"2686","DOI":"10.1038\/jid.2008.120","article-title":"Melanoblasts\u2019 proper location and timed differentiation depend on Notch\/RBP-J signaling in postnatal hair follicles","volume":"128","author":"Aubin-Houzelstein","year":"2008","journal-title":"J Invest Dermatol"},{"key":"R9-23-20240828","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1111\/j.1755-148X.2007.00423.x","article-title":"Both Notch1 and Notch2 contribute to the regulation of melanocyte homeostasis","volume":"21","author":"Kumano","year":"2008","journal-title":"Pigment Cell Melanoma Res"},{"key":"R10-23-20240828","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1016\/S1474-4422(09)70332-1","article-title":"\u03b3-secretases: From cell biology to therapeutic strategies","volume":"9","author":"Bergmans","year":"2010","journal-title":"Lancet Neurol"}],"container-title":["Indian Dermatology Online Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/idoj.IDOJ_218_20","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T19:13:09Z","timestamp":1787166789000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/idoj.IDOJ_218_20"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021]]}},"URL":"https:\/\/doi.org\/10.4103\/idoj.idoj_218_20","relation":{},"ISSN":["2229-5178"],"issn-type":[{"value":"2229-5178","type":"print"}],"subject":[],"published":{"date-parts":[[2021,1]]}}}