{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T12:54:15Z","timestamp":1791291255676,"version":"4.3.0"},"reference-count":30,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2015,3,28]],"date-time":"2015-03-28T00:00:00Z","timestamp":1427500800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,7]]},"abstract":"<jats:sec><jats:label\/><jats:p>Bazex\u2010Dupr\u00e9\u2010Christol syndrome (BDCS) [OMIM 301845] is an X\u2010linked dominant disorder of the hair follicle characterized by multiple basal cell carcinomas, follicular atrophoderma, congenital hypotrichosis, and hypohidrosis. Additional features include multiple milia, trichoepitheliomas, and axillary hidradenitis suppurativa as well as a variety of other symptoms. Some patients with a diagnosis of BDCS have had poor school performance. But no other associated psychopathological disorders have been described in the literature. We describe the neuropsychological characteristics and the co\u2010occurring psychopathological disorders in an Italian family (brother and sister, and their mother) affected by BDCS. The BDCS phenotype in this family was characterized by hypotrichosis, atrophoderma follicularis, milia, and trichoepitheliomas. No basal cell carcinomas were documented. At neuropsychological assessment the three affected family members all had a borderline cognitive level. Other identified psychopathological disorders included attention deficit hyperactivity disorder, executive deficits, academic difficulties, deficits in lexical skills, and internalizing problems. The presence of cognitive impairment in the three family members affected by BDCS suggests that cognitive impairment may be associated with the syndrome. It may be useful to assess neuropsychological performance in patients with BDCS to identify possible associated neuropsychological disorders. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37041","type":"journal-article","created":{"date-parts":[[2015,3,29]],"date-time":"2015-03-29T05:58:00Z","timestamp":1427608680000},"page":"1637-1643","source":"Crossref","is-referenced-by-count":6,"title":["Borderline cognitive level in a family with Bazex\u2010Dupr\u00e9\u2010Christol syndrome"],"prefix":"10.1002","volume":"167","author":[{"given":"Michaela Veronika","family":"Gonfiantini","sequence":"first","affiliation":[{"name":"Department of Pediatric Medicine  Rare Diseases and Medical Genetics Bambino Ges\u00f9 Children's Hospital IRCCS Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Armando","sequence":"additional","affiliation":[{"name":"Department of Neuroscience Bambino Ges\u00f9 Children's Hospital IRCCS Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Laura","family":"Pucciarini","sequence":"additional","affiliation":[{"name":"Department of Neuroscience Bambino Ges\u00f9 Children's Hospital IRCCS Rome Italy"},{"name":"Department of Human Sciences Lumsa University Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Macchiaiolo","sequence":"additional","affiliation":[{"name":"Department of Pediatric Medicine  Rare Diseases and Medical Genetics Bambino Ges\u00f9 Children's Hospital IRCCS Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola Sabrina","family":"Buonuomo","sequence":"additional","affiliation":[{"name":"Department of Pediatric Medicine  Rare Diseases and Medical Genetics Bambino Ges\u00f9 Children's Hospital IRCCS Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Diociaiuti","sequence":"additional","affiliation":[{"name":"Dermatology Department of Pediatric Medicine Bambino Ges\u00f9 Children's Hospital IRCCS Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca Romana","family":"Lepri","sequence":"additional","affiliation":[{"name":"Cytogenetics and Molecular Genetics Bambino Ges\u00f9 Children's Hospital IRCCS Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pietro","family":"Sirleto","sequence":"additional","affiliation":[{"name":"Cytogenetics and Molecular Genetics Bambino Ges\u00f9 Children's Hospital IRCCS Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Vicari","sequence":"additional","affiliation":[{"name":"Department of Neuroscience Bambino Ges\u00f9 Children's Hospital IRCCS Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Bartuli","sequence":"additional","affiliation":[{"name":"Department of Pediatric Medicine  Rare Diseases and Medical Genetics Bambino Ges\u00f9 Children's Hospital IRCCS Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,3,28]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1037\/10517-028"},{"key":"e_1_2_4_3_1","first-page":"866","volume-title":"Diagnostic and statistical manual for mental disorders: DSM\u2010IV","author":"American Psychiatric Association. 1994"},{"key":"e_1_2_4_4_1","volume-title":"VABS\u2010Vineland adaptive behavior scales","author":"Balboni G","year":"2003"},{"key":"e_1_2_4_5_1","first-page":"206","article-title":"G\u00e9nodermatose complexe de type ind\u00e9termin\u00e9 associant une hypotrichose, un \u00e9tat atrophodermique generalize et des d\u00e9g\u00e9n\u00e9rescences cutan\u00e9es multiples (\u00e9pitheliomas baso\u2010cellulaires)","volume":"71","author":"Bazex A","year":"1964","journal-title":"Bull Soc Fr Derm Syphil"},{"key":"e_1_2_4_6_1","volume-title":"VMI: Developmental Test of Visual\u2010Motor Integration. 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