ABSTRACT
Histopathologic features include foci of suprabasal clefts and acantholytic dyskeratotic cells in the spinous and granular layers.
• This is an autosomal dominant disease related to mutations of the ATP2A2 gene encoding a protein belonging to the SERCA subfamily of the P-type Ca2+ ATPases (SERCA2). These mutations are responsible for an impaired formation of desmosomes and for the subsequent increased acantholysis.
