Darier's disease: An evaluation of its neuropsychiatric component

Background. - Darrier's disease is a rare genodermatosis with a dominant autosomic penetrating variable transmission. The association between Darier's disease and neuropsychiatric disorders has been reported since 1996. Moreover, associations with mental retardation, schizophrenia, mood disorders and suicide have been reported. The discovery in 1999 of the ATP2A2 gene of Darier's disease, localised on chromosome 12, allowed significant advances notably in understanding the pathogenicity of these symptoms. Material and methods.-In this article, we present the preliminary results of a clinical and genetic study of eight Tunisian families, involving dermatologists, psychiatrists and geneticians. Eight patients with Darier's disease and their first degree relatives were included in the study after they had given their written consent. Thirty-five subjects were examined, 23 of them had Darier's disease. All patients were submitted to a complete clinical examination; notably dermatological screening, genetic inquiry and blood tests for haplotype analysis. Only 13 of them underwent a psychiatric examination. Results. - The psychiatric examination was carried out only in 13 patients with Darier's disease, who revealed neuropsychiatric symptoms with a frequency of 61.1% (8/13). Two patients presented mild mental retardation; six patients had mood disorders, three of them belonged to the same family (two had recurrent depression, four belonged to the bipolar spectrum [2 bipolar disorder type 2, 2 cyclothymia]). The coexpression of the two distinct phenotypes (Darier's disease and bipolar disease), within the same three members' of the family of our study, suggests the existence of a genetic linkage between the two diseases, as has been reported in the literature. (C) L'Encephale, Paris, 2008.