Borderline cognitive level in a family with Bazex-Dupré-Christol syndrome

Stefano Vicari, Paola Sabrina Buonuomo, Andrea Diociaiuti, Michaela Veronika Gonfiantini, Marco Armando, Maria Laura Pucciarini, Francesca Romana Lepri, Pietro Sirleto, Andrea Bartuli

Research output: Contribution to journalArticle

2 Citations (Scopus)

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.
Original languageEnglish
Pages (from-to)1637-1643
Number of pages7
JournalAMERICAN JOURNAL OF MEDICAL GENETICS. PART A
Volume167
DOIs
Publication statusPublished - 2015

Keywords

  • Bazex-Dupré-Christol syndrome
  • Cognitive level
  • Poor school performance
  • Psychopathological disorders

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