Late‐onset comedonal Darier's disease caused by a recurrent ATP2A2 mutation

Linear comedonal Darier disease: A rare variant

“…2 Besides, like Darier disease, an association with ATP2A2 mutation has been found. 3 Our case was peculiar due to the following reasons: (i) linear distribution, a variant to the best of our knowledge, has not been reported before. (ii) Except for few comedones, the predominant primary lesions were grey-to-grey- brown keratotic papules that at places coalesced to form plaque, a presentation rarely described.…”

Darier’s disease with epilepsy in an elderly patient after surgery for aortic dissection

“…Two DD cases, one classical DD and one comedonal DD, with a mutation at the same codon in ATP2A2 have been reported. 2,3 In addition, in silico analysis with PolyPhen-2 (http://genet ics.bwh.harva rd.edu/pph2/) predicted the mutation to be 'probably damaging', and the SIFT program (http://sift.jcvi.org/) predicted it to be 'damaging'. According to the American College of Medical Genetics (ACMG) guidelines, we consider the present mutation as 'likely pathogenic'.…”