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


CONCLUSIONS
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).
Lipoff
Jules B
JB
Division of Dermatology, Albert Einstein College of Medicine, New York, NY, USA.
Mudgil
Adarsh V
AV
Young
Saryna
S
Chu
Paul
P
Cohen
Steven R
SR
D000051:Acantholysis / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D001706:Biopsy; D000252:Calcium-Transporting ATPases / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D016506:Pemphigus, Benign Familial / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D016133:Polymerase Chain Reaction; D012867:Skin / Q000378:metabolism / Q000473:pathology*
D004247:DNA; C403624:ATP2C1 protein, human; D000252:Calcium-Transporting ATPases