title: Somatic ATP2A2 mutation in a case of papular acantholytic dyskeratosis: mosaic Darier disease.
abstract: Papular acantholytic dyskeratosis, also known as acantholytic dermatosis of the vulvocrural (or anogenital) area, is an uncommon eruption reported predominantly in women. This entity manifests with pruritic papules in the groin/anogenital area and less commonly on the chest. The pathobiology of papular acantholytic dyskeratosis is uncertain. A 62-year-old woman presented with multiple verrucous-appearing lesions in the groin and on the chest showing acantholytic dyskeratosis on histopathology. Given histological similarity of these papular acantholytic dyskeratosis lesions to Darier disease due to inherited ATP2A2 mutation, we screened affected and normal tissue and peripheral blood in our patient for mutations in ATP2A2. We found an identical ATP2A2 p.706D>N mutation in multiple independent papular acantholytic dyskeratosis lesions that was not present in uninvolved skin or peripheral blood DNA. These findings establish somatic mosaicism of ATP2A2 mutations as a genetic cause for papular acantholytic dyskeratosis.
authors.affiliation: Department of Dermatology, Yale University School of Medicine, New Haven, CT, USA.|Department of Medicine, Division of Dermatology, University of Washington, Seattle, WA, USA.|Departments of Pathology and Dermatology Group Health Permanente, Seattle, WA, USA.
authors.forename: Eleanor A
authors.initials: EA
authors.lastname: Knopp
authors.affiliation: Department of Dermatology, Yale University School of Medicine, New Haven, CT, USA.|Florida International University Wertheim College of Medicine, Miami, FL, USA.
authors.forename: Corey
authors.initials: C
authors.lastname: Saraceni
authors.affiliation: Department of Dermatology, Yale University School of Medicine, New Haven, CT, USA.
authors.forename: Jeremy
authors.initials: J
authors.lastname: Moss
authors.affiliation: Department of Dermatology, Yale University School of Medicine, New Haven, CT, USA.|Department of Pathology, Yale University School of Medicine, New Haven, CT, USA.
authors.forename: Jennifer M
authors.initials: JM
authors.lastname: McNiff
authors.affiliation: Department of Dermatology, Yale University School of Medicine, New Haven, CT, USA.
authors.forename: Keith A
authors.initials: KA
authors.lastname: Choate
mesh_terms: D007644:Darier Disease / Q000378:metabolism / Q000473:pathology*; D005260:Female; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D009030:Mosaicism; D009154:Mutation; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases / Q000378:metabolism*
chemical_list: D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases; C506946:ATP2A2 protein, human
keywords: Darier disease; acantholysis; dyskeratosis; mosaicism; somatic