| Content Provider |
World Health Organization (WHO)-Global Index Medicus |
| Author |
Gonfiantini, Michaela Veronika Armando, Marco Pucciarini, Maria Laura Macchiaiolo, Marina Buonuomo, Paola Sabrina Diociaiuti, Andrea Lepri, Francesca Romana Sirleto, Pietro Vicari, Stefano Bartuli, Andrea |
| Spatial Coverage |
Italy |
| Description |
Country affiliation: Italy Author Affiliation: Gonfiantini MV ( Department of Pediatric Medicine, Rare Diseases and Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.); Armando M ( Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.); Pucciarini ML ( Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.); Macchiaiolo M ( Department of Human Sciences, Lumsa University, Rome, Italy.); Buonuomo PS ( Department of Pediatric Medicine, Rare Diseases and Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.); Diociaiuti A ( Department of Pediatric Medicine, Rare Diseases and Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.); Lepri FR ( Dermatology, Department of Pediatric Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.); Sirleto P ( Cytogenetics and Molecular Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.); Vicari S ( Cytogenetics and Molecular Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.); Bartuli A ( Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.) |
| 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. |
| File Format |
HTM / HTML |
| ISSN |
15524825 |
| Issue Number |
7 |
| Volume Number |
167 |
| e-ISSN |
15524833 |
| Journal |
American Journal of Medical Genetics Part A |
| Language |
English |
| Publisher |
Wiley-Blackwell |
| Publisher Date |
2015-07-01 |
| Publisher Place |
United States |
| Access Restriction |
One Nation One Subscription (ONOS) |
| Subject Keyword |
Discipline Human Discipline Genetics Carcinoma, Basal Cell Pathology Cognition Disorders Hair Hypotrichosis Phenotype Skin Neoplasms Adult Genetics Child Child, Preschool Executive Function Physiology Female Humans Italy Male Neuropsychological Tests Pedigree Psychomotor Performance Case Reports Journal Article |
| Content Type |
Text |
| Resource Type |
Article Case study |
| Subject |
Genetics Genetics (clinical) |
