TY - JOUR
T1 - Borderline cognitive level in a family with Bazex-Dupré-Christol syndrome
AU - Gonfiantini, Michaela Veronika
AU - Armando, Marco
AU - Pucciarini, Maria Laura
AU - Macchiaiolo, Marina
AU - Buonuomo, Paola Sabrina
AU - Diociaiuti, Andrea
AU - Lepri, Francesca Romana
AU - Sirleto, Pietro
AU - Vicari, Stefano
AU - Bartuli, Andrea
PY - 2015
Y1 - 2015
N2 - 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.
AB - 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.
KW - Bazex-Dupré-Christol syndrome
KW - Cognitive level
KW - Poor school performance
KW - Psychopathological disorders
KW - Bazex-Dupré-Christol syndrome
KW - Cognitive level
KW - Poor school performance
KW - Psychopathological disorders
UR - http://hdl.handle.net/10807/167613
U2 - 10.1002/ajmg.a.37041
DO - 10.1002/ajmg.a.37041
M3 - Article
SN - 1552-4825
VL - 167
SP - 1637
EP - 1643
JO - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A
JF - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A
ER -