Curman Philip, Bern Johanna, Sand Linnea, Cederlöf Martin, Bachar-Wikström Etty, Wikström Jakob D
Dermatology and Venereology Division, Department of Medicine (Solna), Karolinska Institutet, SE-17176 Stockholm, Sweden.
Acta Derm Venereol. 2021 Jun 22;101(6):adv00476. doi: 10.2340/00015555-3818.
Darier disease and Hailey-Hailey disease are severe, monogenetic dermatological disorders with mutations affecting all cells, making them liable to exhibit extra-dermal symptoms. The aim of this study is to assess broad cognitive function in individuals with these diseases, using an experimental, case-control set-up comparing cognition in patients with that in healthy controls matched for age, sex and level of education. Cognition was assessed with the Cambridge Neuropsycho-logical Test Automated Battery. Patients with Darier disease (n = 29) performed significantly poorer on 5 of the 10 key cognitive measurements, while patients with Hailey-Hailey disease (n = 25) did not perform differently from controls. The main conclusion is that patients with Darier disease exhibit significant impairment in cognitive function, which reinforces the view that Darier disease should be regarded as a disorder affecting multiple organs, and should therefore be given medical consideration, and possibly treat-ment, as such.
达里埃病和黑利-黑利病是严重的单基因皮肤病，其突变影响所有细胞，使其易于出现皮肤外症状。本研究的目的是通过一项实验性病例对照研究，比较达里埃病和黑利-黑利病患者与年龄、性别和教育水平相匹配的健康对照者的认知情况，以评估这些疾病患者的广泛认知功能。使用剑桥神经心理测试自动成套系统评估认知功能。达里埃病患者（n = 29）在10项关键认知测量中的5项上表现明显较差，而黑利-黑利病患者（n = 25）的表现与对照组无差异。主要结论是，达里埃病患者存在显著的认知功能损害，这强化了达里埃病应被视为一种影响多个器官的疾病的观点，因此应将其作为此类疾病进行医学考量，并可能进行治疗。
