{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,18]],"date-time":"2025-11-18T01:32:44Z","timestamp":1763429564169,"version":"3.44.0"},"reference-count":17,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2018,11,28]]},"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:p>Trichothiodystrophy is a rare condition associated with autosomal recessive or X-linked dominant variants in the ERCC2, ERCC3, GTF2H5, MPLKIP, RNF113A or GTF2E2 genes. The genes associated to photosensitive trichothiodystrophy encode subunits of transcription factor IIH, involved in the nucleotide excision repair pathway. The disease is characterised by cysteine-deficient brittle hair along with other neuroectodermal abnormalities. It has a variable clinical expression and some cases might be associated with photosensitivity, resulting in the acronym PIBIDS (<jats:italic>photosensitivity<\/jats:italic>, <jats:italic>ichthyosis<\/jats:italic>, <jats:italic>brittle hair<\/jats:italic>, <jats:italic>intellectual impairment<\/jats:italic>, <jats:italic>decreased fertility<\/jats:italic> and <jats:italic>short stature<\/jats:italic>). We report clinical findings of two siblings diagnosed with trichothiodystrophy associated with marked photosensitivity.<\/jats:p>","DOI":"10.1136\/bcr-2017-223744","type":"journal-article","created":{"date-parts":[[2018,12,22]],"date-time":"2018-12-22T15:05:17Z","timestamp":1545491117000},"page":"e223744","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":5,"title":["PIBIDS syndrome in two Brazilian siblings"],"prefix":"10.1136","volume":"11","author":[{"given":"Kerstin Taniguchi","family":"Abagge","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Universidade Federal do Parana, Curitiba, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Felipe","family":"Haupenthal","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Universidade Federal do Parana, Curitiba, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriella Yamashita","family":"Felber","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Universidade Federal do Parana, Curitiba, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salmo","family":"Raskin","sequence":"additional","affiliation":[{"name":"Department of Genetics, Universidade Federal do Parana, Curitiba, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2018,12,22]]},"reference":[{"key":"2025082708015253000_11.1.e223744.1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jid.5700384"},{"key":"2025082708015253000_11.1.e223744.2","doi-asserted-by":"publisher","DOI":"10.1086\/302063"},{"key":"2025082708015253000_11.1.e223744.3","unstructured":"\u00a0Online Mendelian Inheritance in Man, OMIM\u00ae. Trichothiodystrophy 1, Photosensitive; TTD1. MIM Number: 601675. Baltimore, MD: Johns Hopkins University, 2018."},{"key":"2025082708015253000_11.1.e223744.4","doi-asserted-by":"publisher","DOI":"10.1038\/ng1387"},{"key":"2025082708015253000_11.1.e223744.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroscience.2006.12.020"},{"key":"2025082708015253000_11.1.e223744.6","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp390"},{"key":"2025082708015253000_11.1.e223744.7","doi-asserted-by":"publisher","DOI":"10.1101\/gad.859501"},{"key":"2025082708015253000_11.1.e223744.8","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20768"},{"key":"2025082708015253000_11.1.e223744.9","doi-asserted-by":"publisher","DOI":"10.1016\/j.dnarep.2009.10.005"},{"key":"2025082708015253000_11.1.e223744.10","doi-asserted-by":"publisher","DOI":"10.1016\/j.dnarep.2008.01.014"},{"key":"2025082708015253000_11.1.e223744.11","doi-asserted-by":"crossref","first-page":"8988","DOI":"10.3390\/ijms16048988","article-title":"Xeroderma pigmentosum: low prevalence of germline XPA mutations in a Brazilian XP population","volume":"16","author":"Santiago","year":"2015","journal-title":"Int J Mol Sci"},{"key":"2025082708015253000_11.1.e223744.12","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1590\/abd1806-4841.20187727","article-title":"Do you know this syndrome? Ichthyosis associated with neurological condition and alteration of hairs","volume":"93","author":"Pereira","year":"2018","journal-title":"An Bras Dermatol"},{"key":"2025082708015253000_11.1.e223744.13","doi-asserted-by":"crossref","unstructured":"Silva DS , Almeida I , Netto CF , et al . Trichothiodystrophy: a case report of childhood glaucoma associated with non-acquired systemic disease. Arq Bras Oftalmol 2018;81.doi:10.5935\/0004-2749.20180101","DOI":"10.5935\/0004-2749.20180101"},{"key":"2025082708015253000_11.1.e223744.14","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2011.05.036"},{"key":"2025082708015253000_11.1.e223744.15","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.058743"},{"key":"2025082708015253000_11.1.e223744.16","doi-asserted-by":"publisher","DOI":"10.1016\/S0039-6257(02)00400-9"},{"key":"2025082708015253000_11.1.e223744.17","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1997)9:6<519::AID-HUMU4>3.0.CO;2-X"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2017-223744","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T15:01:57Z","timestamp":1756306917000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2017-223744"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,11]]},"references-count":17,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2018,12,22]]},"published-print":{"date-parts":[[2018,11]]}},"alternative-id":["10.1136\/bcr-2017-223744"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2017-223744","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2018,11]]}}}