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So\u2010called photosensitive forms of TTD (with low level of in vitro UV\u2010induced DNA repair, not constantly associated with marked clinical photosensitivity) are caused by mutations in genes encoding subunits of the transcription\/repair factor IIH (TFIIH). Ten percentage of nonphotosensitive patients are known to have <jats:italic>TTDN1<\/jats:italic> mutations, the specific role of which is unknown. We studied nine patients recruited at our institution and reviewed 79 with molecular analysis out of 122 TTD patients reported in literature with the aim to collect systematically the clinical findings in TTD patients and establish genotype\u2013phenotype correlations. The frequency of congenital ichthyosis, collodion\u2010baby type, was significantly higher in the TFIIH mutated group. Hypogonadism was significantly more frequent in the non\u2010photosensitive group. There was no statistical difference regarding osseous anomalies. Mutations in TFIIH sub\u2010units leading to abnormal expression in genes involved in epidermal differentiation could explain the particular dermatological changes seen in photosensitive cases of TTD. We suggest a new clinico\u2010genetic classification of TTD, which may help clinicians confused by the current acronyms used (IBIDS, PIBIDS\u2026). Understanding the TTD ichthyotic phenotype could lead to therapeutic advances in the management of TTD and other types of ichthyoses. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32902","type":"journal-article","created":{"date-parts":[[2009,8,13]],"date-time":"2009-08-13T18:32:17Z","timestamp":1250188337000},"page":"2020-2030","source":"Crossref","is-referenced-by-count":61,"title":["New clinico\u2010genetic classification of 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