Clinical, Cosmetic and Investigational Dermatology (Dec 2024)
A Novel Nonsense Mutation of the ATP2C1 Gene in an 18-Year-Old-Female with Papular Acantholytic Dyskeratosis of the Anogenital Area
Abstract
Shuqi Huang,* Moath abbas abdalla alhadidi,* Nanfei Feng, Chuan Wan Department of Dermatology, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, People’s Republic of China*These authors contributed equally to this workCorrespondence: Chuan Wan, Department of Dermatology, The First Affiliated Hospital of Nanchang University, Yong Wai Zheng Street 17#, Nanchang, 330006, People’s Republic of China, Tel +86-18070052970, Email [email protected]: Papular acantholytic dyskeratosis (PAD), often found to occur in the vulvar or anogenital area, is an exceedingly rare skin condition that usually presents in adulthood and features multiple smooth skin-colored or grayish-white papules with or without pruritus. Although the pathogenesis of PAD is unknown, PAD may be associated with mutations in ATP2C1 and ATP2A2 genes. Here, we report on an 18-year-old female patient with multiple gray-white flat papules in the anogenital area. Skin biopsy revealed hyperkeratosis of the epidermis, acantholysis, formation of fissures or lacunae, and disappearance of desmosomes. Whole exon sequencing (WES) of the patient indicated mutations in the ATP2C1 gene.Keywords: Papular acantholytic dyskeratosis, Whole exon sequencing, ATP2C1
