Clinical, Cosmetic and Investigational Dermatology (Mar 2022)
A Case of Darier’s Disease with a Novel Missense Mutation in ATP2A2 Successfully Treated with Calcipotriol/Betamethasone Dipropionate Two-Compound Ointment
Abstract
Teppei Hagino,1 Hajime Nakano,2 Hidehisa Saeki,3 Naoko Kanda1 1Department of Dermatology, Nippon Medical School Chiba Hokusoh Hospital, Inzai, Japan; 2Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan; 3Department of Dermatology, Nippon Medical School, Bunkyo-Ku, Tokyo, JapanCorrespondence: Teppei Hagino, Department of Dermatology, Nippon Medical School Chiba Hokusoh Hospital, 1715 Kamagari, Inzai, Chiba, 270-1694, Japan, Tel +81 476 99 1111, Fax +81 476 99 1911, Email [email protected]: Darier’s disease (DD) is a rare autosomal dominant genodermatosis caused by mutations in the ATP2A2 gene, which encodes for the sarcoendoplasmic reticulum calcium ATPase type 2 isoform (SERCA2). In epidermal keratinocytes, the decrease in SERCA2 inhibits the transportation of desmosomal proteins to the plasma membrane, resulting in acantholysis and dyskeratosis. We present the first case of DD with a novel missense mutation in the ATP2A2 gene and successfully treated with calcipotriol/betamethasone dipropionate two-compound ointment. A 34-year-old Japanese woman presented with erythema and scales on the scalp and clusters of keratotic papules on the neck and groin. Similar symptoms were observed in her father, younger sister, and daughter. Histopathological examination revealed corps ronds in the granular layer and grains in the horny layer of the epidermis and acantholytic lacuna just above the basal layer. She was diagnosed with DD. A novel heterozygous missense mutation, c.616A>C (p.Asn206His), was detected in the ATP2A2 gene in both the patient and her daughter. The patient was treated with calcipotriol/betamethasone dipropionate two-compound ointment, which resulted in improvement of the skin eruption. This two-compound topical ointment may be a promising therapeutic strategy in the treatment for DD.Keywords: sarcoendoplasmic reticulum calcium ATPase type 2 isoform, corticosteroid, 1, 25-dihydroxyvitamin D3, p.Asn206His
