Literature DB >> 19426624

Acantholytic dermatosis of the crural folds with ATP2C1 mutation is a possible variant of Hailey-Hailey Disease.

Jules B Lipoff1, Adarsh V Mudgil, Saryna Young, Paul Chu, Steven R Cohen.   

Abstract

BACKGROUND: We describe a patient with acantholytic dermatosis of the crural folds (ADCF) that was misdiagnosed and treated as condyloma acuminata for 13 years. After many skin biopsies consistently showed epidermal acantholysis and negative human papillomavirus serotyping excluded condyloma acuminata, a diagnosis of ADCF was considered most likely. OBJECTIVE AND
CONCLUSION: Acitretin effectively suppressed the symptomatic hyperkeratosis. Subsequent genetic testing revealed a deletion in the ATP2C1 gene that led us to conclude that this case of ADCF is probably a variant of familial benign chronic pemphigus (Hailey-Hailey disease).

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Year:  2009        PMID: 19426624     DOI: 10.2310/7750.2008.08005

Source DB:  PubMed          Journal:  J Cutan Med Surg        ISSN: 1203-4754            Impact factor:   2.092


  4 in total

1.  Somatic ATP2A2 mutation in a case of papular acantholytic dyskeratosis: mosaic Darier disease.

Authors:  Eleanor A Knopp; Corey Saraceni; Jeremy Moss; Jennifer M McNiff; Keith A Choate
Journal:  J Cutan Pathol       Date:  2015-08-12       Impact factor: 1.587

Review 2.  ATP2C1 gene mutations in Hailey-Hailey disease and possible roles of SPCA1 isoforms in membrane trafficking.

Authors:  M Micaroni; G Giacchetti; R Plebani; G G Xiao; L Federici
Journal:  Cell Death Dis       Date:  2016-06-09       Impact factor: 8.469

3.  Papular acantholytic dyskeratosis of the perianal region in a young woman.

Authors:  Laura Trujillo Ramirez; Camilo Andres Morales Cardona; Juan Carlos Hiromi Lopez Takegami
Journal:  An Bras Dermatol       Date:  2022-07-19       Impact factor: 2.113

4.  Papular acantholytic dyskeratosis localized to the perineal and perianal area in a young male.

Authors:  Shyam B Verma
Journal:  Indian J Dermatol       Date:  2013-09       Impact factor: 1.494

  4 in total

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