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Somatic ATP2A2 mutation in a case of papular acantholytic dyskeratosis: mosaic Darier disease.
- Source :
-
Journal of cutaneous pathology [J Cutan Pathol] 2015 Nov; Vol. 42 (11), pp. 853-7. Date of Electronic Publication: 2015 Aug 12. - Publication Year :
- 2015
-
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.<br /> (© 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
Details
- Language :
- English
- ISSN :
- 1600-0560
- Volume :
- 42
- Issue :
- 11
- Database :
- MEDLINE
- Journal :
- Journal of cutaneous pathology
- Publication Type :
- Academic Journal
- Accession number :
- 26154588
- Full Text :
- https://doi.org/10.1111/cup.12551