{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T03:48:31Z","timestamp":1792381711246,"version":"4.4.0"},"reference-count":13,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2012,7]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Trichothiodistrophy (TTD) is a rare autosomal recessive condition that is characterized by a specific congenital hair shaft dysplasia caused by deficiency of sulfur associated with a wide spectrum of multisystem abnormalities. In this article, we study clinical, microscopic, and ultrastructural findings of 20 patients with TTD with the aim to add further insights regarding to this rare condition. Additionally, analyses of our results are compared with those extracted from the literature in order to enhance its comprehensibility.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials and Methods:<\/jats:title>\n                    <jats:p>Twenty cases of TTD were included: 7 from Mexico and 14 from Spain. Clinical, microscopic, scanning electron microscopy (SEM) studies and X-ray microanalysis (XrMa) were carried out in all of them. Genetic studies were performed in all seven Mexican cases. Patients with xeroderma pigmentosum and xeroderma pigmentosum\/TTD-complex were excluded.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      Cuticular changes and longitudinal crests of the hair shaft were demonstrated. These crests were irregular, disorganized, following the hair longest axis. Hair shaft sulfur deficiency was disposed discontinuously and intermittently rather than uniformly. This severe decrease of sulfur contents was located close to the trichoschisis areas. Only five patients did not show related disturbances. Micro-dolichocephaly was observed in five cases and represented the most frequent facial dysmorphism found. It is also remarkable that all patients with urologic malformations also combined diverse neurologic disorders. Moreover, three Mexican sisters demonstrated the coexistence of scarce pubic\n                      <jats:italic toggle=\"yes\">vellus<\/jats:italic>\n                      hair, developmental delay, onychodystrophy, and maxillar\/mandibullar hypoplasia.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>TTD phenotype has greatly varied from very subtle forms to severe alterations such as neurologic abnormalities, blindness, lamellar ichthyosis and gonadal malformations. Herein, a multisystem study should be performed mandatorily in patients diagnosed with TTD.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/0974-7753.100075","type":"journal-article","created":{"date-parts":[[2014,1,30]],"date-time":"2014-01-30T02:25:20Z","timestamp":1391048720000},"page":"158-163","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":10,"title":["Further Insights in Trichothiodistrophy: A Clinical, Microscopic, and Ultrastructural Study of 20 Cases and Literature Review"],"prefix":"10.4103","volume":"4","author":[{"given":"Juan","family":"Ferrando","sequence":"first","affiliation":[{"name":"Department of Dermatology, Hospital Clinic, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 M.","family":"Mir-Bonaf\u00e9","sequence":"additional","affiliation":[{"name":"Department of Dermatology, University Hospital of Salamanca, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rodrigo","family":"Cepeda-Vald\u00e9s","sequence":"additional","affiliation":[{"name":"Department of Dermatology, DEBRA (Dystrophic Epidermolysis Bullosa Research Association), Monterrey, M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Dom\u00ednguez","sequence":"additional","affiliation":[{"name":"Department of Scientific-Technical Services, University of Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jorge","family":"Ocampo-Candiani","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Hospital Universitario \u201cJose E. Gonz\u00e1lez\u201d Universidad Aut\u00f3noma de Nuevo Le\u00f3n, M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javier","family":"Garc\u00eda-Veigas","sequence":"additional","affiliation":[{"name":"Department of Scientific-Technical Services, University of Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minerva","family":"G\u00f3mez-Flores","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Hospital Universitario \u201cJose E. Gonz\u00e1lez\u201d Universidad Aut\u00f3noma de Nuevo Le\u00f3n, M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julio C.","family":"Salas-Alanis","sequence":"additional","affiliation":[{"name":"Department of Dermatology, DEBRA (Dystrophic Epidermolysis Bullosa Research Association), Monterrey, M\u00e9xico"},{"name":"Department of Dermatology, Hospital Universitario \u201cJose E. Gonz\u00e1lez\u201d Universidad Aut\u00f3noma de Nuevo Le\u00f3n, M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-20250606","doi-asserted-by":"crossref","first-page":"1375","DOI":"10.1001\/archderm.1980.01640360049017","article-title":"Trichothiodystrophy: Sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex","volume":"116","author":"Price","year":"1980","journal-title":"Arch Dermatol"},{"key":"R2-20250606","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1016\/S0168-9525(01)02280-6","article-title":"Trichothiodystrophy, a transcription syndrome","volume":"17","author":"Bergmann","year":"2001","journal-title":"Trends Genet"},{"key":"R3-20250606","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1007\/978-1-4419-6448-9_10","article-title":"Trichothiodystrophy: Photosensitive, TTD-P, TTD, Tay syndrome","volume":"685","author":"Lambert","year":"2010","journal-title":"Adv Exp Med Biol"},{"key":"R4-20250606","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1016\/j.jaad.2004.09.013","article-title":"Characterization of tiger-tail banding and hair shaft abnormalities in trichothiodystrophy","volume":"52","author":"Liang","year":"2005","journal-title":"J Am Acad Dermatol"},{"key":"R5-20250606","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1111\/j.1525-1470.1992.tb00633.x","article-title":"Trichothiodystrophy: Update","volume":"9","author":"Price","year":"1992","journal-title":"Pediatr Dermatol"},{"key":"R6-20250606","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1136\/jmg.2008.058743","article-title":"Trichothiodystrophy: A systematic review of 112 published cases characterises a wide spectrum of clinical manifestations","volume":"45","author":"Faghri","year":"2008","journal-title":"J Med Genet"},{"key":"R7-20250606","doi-asserted-by":"crossref","first-page":"2020","DOI":"10.1002\/ajmg.a.32902","article-title":"New clinico-genetic classification of trichothiodystrophy","volume":"149A","author":"Morice-Picard","year":"2009","journal-title":"Am J Med Genet A"},{"key":"R8-20250606","doi-asserted-by":"crossref","first-page":"R224","DOI":"10.1093\/hmg\/ddp390","article-title":"Trichothiodystrophy view from the molecular basis of DNA repair\/transcription factor TFIIH","volume":"18","author":"Hashimoto","year":"2009","journal-title":"Hum Mol Genet"},{"key":"R9-20250606","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1016\/j.dnarep.2009.10.005","article-title":"Trichothiodystrophy: From basic mechanisms to clinical implications","volume":"9","author":"Stefanini","year":"2010","journal-title":"DNA Repair (Amst)"},{"key":"R10-20250606","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1067\/mjd.2001.114294","article-title":"Trichothiodystrophy: Update on the sulfur-deficient brittle hair syndromes","volume":"44","author":"Itin","year":"2001","journal-title":"J Am Acad Dermatol"},{"key":"R11-20250606","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1086\/428141","article-title":"Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy","volume":"76","author":"Nakabayashi","year":"2005","journal-title":"Am J Hum Genet"},{"key":"R12-20250606","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1111\/j.1525-1470.1997.tb00685.x","article-title":"Trichothiodystrophy associated with urologic malformation and primary hypercalciuria","volume":"14","author":"Malvehy","year":"1997","journal-title":"Pediatr Dermatol"},{"key":"R13-20250606","doi-asserted-by":"crossref","first-page":"2210","DOI":"10.1038\/sj.jid.5700384","article-title":"Structural and molecular hair abnormalities in trichothiodystrophy","volume":"126","author":"Liang","year":"2006","journal-title":"J Invest Dermatol"}],"container-title":["International Journal of Trichology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/01437809-201204030-00004","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T13:22:11Z","timestamp":1787836931000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/01437809-201204030-00004"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,7]]},"references-count":13,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2012]]}},"URL":"https:\/\/doi.org\/10.4103\/0974-7753.100075","relation":{},"ISSN":["0974-7753","0974-9241"],"issn-type":[{"value":"0974-7753","type":"print"},{"value":"0974-9241","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,7]]}}}