title: Borderline cognitive level in a family with Bazex-Dupré-Christol syndrome.
abstract: Bazex-Dupré-Christol syndrome (BDCS) [OMIM 301845] is an X-linked 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-occurring 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.
authors.affiliation: Department of Pediatric Medicine, Rare Diseases and Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Michaela Veronika
authors.initials: MV
authors.lastname: Gonfiantini
authors.affiliation: Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Armando
authors.affiliation: Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.|Department of Human Sciences, Lumsa University, Rome, Italy.
authors.forename: Maria Laura
authors.initials: ML
authors.lastname: Pucciarini
authors.affiliation: Department of Pediatric Medicine, Rare Diseases and Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Marina
authors.initials: M
authors.lastname: Macchiaiolo
authors.affiliation: Department of Pediatric Medicine, Rare Diseases and Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Paola Sabrina
authors.initials: PS
authors.lastname: Buonuomo
authors.affiliation: Dermatology, Department of Pediatric Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Diociaiuti
authors.affiliation: Cytogenetics and Molecular Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Francesca Romana
authors.initials: FR
authors.lastname: Lepri
authors.affiliation: Cytogenetics and Molecular Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Pietro
authors.initials: P
authors.lastname: Sirleto
authors.affiliation: Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Vicari
authors.affiliation: Department of Pediatric Medicine, Rare Diseases and Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Bartuli
mesh_terms: D000328:Adult; D002280:Basal Cell Carcinoma / Q000235:genetics / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D003072:Cognition Disorders / Q000473:pathology*; D056344:Executive Function / Q000502:physiology; D005260:Female; D006197:Hair / Q000473:pathology*; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics / Q000473:pathology*; D007558:Italy; D008297:Male; D009483:Neuropsychological Tests; D010375:Pedigree; D010641:Phenotype; D011597:Psychomotor Performance / Q000502:physiology; D012878:Skin Neoplasms / Q000235:genetics / Q000473:pathology*
keywords: Bazex-Dupré-Christol syndrome; cognitive level; poor school performance; psychopathological disorders