{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,25]],"date-time":"2025-11-25T20:31:04Z","timestamp":1764102664533,"version":"3.40.5"},"reference-count":10,"publisher":"FapUNIFESP (SciELO)","issue":"6 suppl 1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["An. Bras. Dermatol."],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:p>We report the case of a 28-year-old woman with Kindler syndrome, a rare form of epidermolysis bullosa. Clinically, since childhood, she had widespread pigmentary changes in her skin as well as photosensitivity and fragility of the skin and mucous membranes. The mucosal involvement led to an erosive stomatitis as well as esophageal, anal and vaginal stenoses, requiring surgical intervention. The diagnosis of Kindler syndrome was confirmed by DNA sequencing with compound heterozygosity for a nonsense\/frameshift combination of mutations (p.Arg110X; p.Ala289GlyfsX7) in the FERMT1 gene.<\/jats:p>","DOI":"10.1590\/abd1806-4841.20132173","type":"journal-article","created":{"date-parts":[[2014,1,30]],"date-time":"2014-01-30T19:47:26Z","timestamp":1391111246000},"page":"212-215","source":"Crossref","is-referenced-by-count":13,"title":["Sporadic Kindler Syndrome with a novel mutation"],"prefix":"10.1590","volume":"88","author":[{"given":"Hiram Larangeira de","family":"Almeida Jr","sequence":"first","affiliation":[{"name":"Federal University of Pelotas,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gl\u00e1ucia Thomas","family":"Heckler","sequence":"additional","affiliation":[{"name":"Catholic University of Porto Alegre,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenneth","family":"Fong","sequence":"additional","affiliation":[{"name":"St John's Institute of Dermatology Research Laboratories,  England"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joey","family":"Lai-Cheong","sequence":"additional","affiliation":[{"name":"St John's Institute of Dermatology Research Laboratories,  England"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"McGrath","sequence":"additional","affiliation":[{"name":"St John's Institute of Dermatology Research Laboratories,  England"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"530","reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1111\/j.1365-4632.2009.03936.x","article-title":"Kindler syndrome: report of three cases in a family and a brief review","volume":"48","author":"Yazdanfar A","year":"2009","journal-title":"Int J 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