A Case of Darier’s Disease with a Novel Missense Mutation in ATP2A2 Successfully Treated with Calcipotriol/Betamethasone Dipropionate Two-Compound Ointment

Abstract

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.

Darier Disease: Case Report

“…Besides the bumpy marks on the top of their hands and feet and holes on their palms and under their nails, you might also watch rough bumps in oily or hidden areas on their skin. The current situation only slightly showed these conclusions (4).…”

“…Between 1 in every 30,000 to 100,000 people will be affected by Darier disease. It is a skin condition that passes down through genes and does not favor any specific gender (4).…”