Gonfiantini Michaela Veronika, Armando Marco, Pucciarini Maria Laura, Macchiaiolo Marina, Buonuomo Paola Sabrina, Diociaiuti Andrea, Lepri Francesca Romana, Sirleto Pietro, Vicari Stefano, Bartuli Andrea
Department of Pediatric Medicine, Rare Diseases and Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Am J Med Genet A. 2015 Jul;167(7):1637-43. doi: 10.1002/ajmg.a.37041. Epub 2015 Mar 28.
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.
巴泽克斯 - 迪普雷 - 克里斯托尔综合征（BDCS）[在线人类孟德尔遗传数据库编号301845]是一种毛囊的X连锁显性疾病，其特征为多发性基底细胞癌、毛囊性皮肤萎缩、先天性毛发稀少和少汗症。其他特征包括多发性粟丘疹、毛发上皮瘤和腋窝化脓性汗腺炎以及多种其他症状。一些诊断为BDCS的患者学业成绩不佳。但文献中未描述其他相关的精神病理障碍。我们描述了一个受BDCS影响的意大利家庭（兄妹及其母亲）的神经心理学特征和同时出现的精神病理障碍。这个家庭中的BDCS表型特征为毛发稀少、毛囊性皮肤萎缩、粟丘疹和毛发上皮瘤。未记录到基底细胞癌。在神经心理学评估中，三名受影响的家庭成员认知水平均处于临界状态。其他确定的精神病理障碍包括注意力缺陷多动障碍、执行功能缺陷、学业困难、词汇技能缺陷和内化问题。三名受BDCS影响的家庭成员存在认知障碍，这表明认知障碍可能与该综合征有关。对BDCS患者进行神经心理学表现评估，以识别可能相关的神经心理学障碍可能是有用的。
