A Novel Small Deletion in the ATP2A2 Gene in a Patient with Sporadic Darier’s Disease and Concomitant Depression: A Case Report
Introduction::Darier’s disease is a rare autosomal dominant skin disorder caused by mutations in ATP2A2. Recently, the high prevalence of neuropsychiatric symptoms is frequently reported in Darier’s disease patients.Case presentation::A 29-year-old man presented with a 15-year history of brown, harsh keratotic papules on his scalp, face, neck, trunk, axilla, ingunia and upper limbs. Meanwhile, he had persistent depression. He was diagnosed as Darier’s disease according to clinical manifestations and result of histological examination. We sequenced all coding regions of ATP2A2. The mutation c.2993_2994del (p. Val998Alafs*33) in exon 20 of ATP2A2 was detected.Discussion::Darier’s disease has been associated with several extracutaneous manifestations, in particular neuropsychiatric morbidity. Likely gene disrupting mutations in ATP2A2 was reported to have a close relationship to Darier’s disease cases with reported co-occurring neuropsychiatric features. Consistent with the previous reports, an likely gene disrupting mutations was detected in our patient with concurrence of DD and depression.Conclusion::The psychiatric disorders in patients with Darier’s disease should be well appreciated .The underlying mechanism in correlation between the mutation in ATP2A2 and neuropsychiatric phenotypes in Darier’s disease remain unclarified and warrants further investigation.
Darier’s disease、neuropsychiatric features、ATP2A2、case report
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National Natural Science Foundation of ChinaNo. 81673073;National Natural Science Foundation of ChinaNo. 81673073
2023-05-30（万方平台首次上网日期，不代表论文的发表时间）
共3页
176-178
