An ATP2A2 Missense Mutation in a Japanese Family with Darier Disease: A Case Report and Review of the Japanese Darier Disease Patients with ATP2A2 Mutations.
J Nippon Med Sch 2017 ;84(5):246-250
Department of Dermatology, Nippon Medical School Hospital.
Darier disease (DD) is a rare autosomal dominant skin disorder due to mutations in the ATP2A2 gene, which encodes sarco/endoplasmic reticulum Ca2+ ATPase isoform 2 (SERCA2). The clinical manifestations of DD are characterized by warty papules and plaques in seborrheic areas, and association with neuropsychiatric abnormalities has also been reported in a few families with DD. We herein report a classic Japanese DD case with a previously described mutation (p. Read More