Gene Variants May Drive Persistent Lesions in Darier Disease
Persistent lesions in patients with Darier disease were associated with second-hit variants in the ATP2A2 gene, according to data from a new case series of 9 patients. In a study published in JAMA Dermatology, Lihi Atzmony, MD, of Rabin Medical Center, Petach Tikva, Israel, and colleagues extracted DNA from areas of unaffected skin, transient lesional skin, persistent lesional skin, and blood from 9 adults with Darier disease (DD), a genetic skin disorder caused by heterozygous loss of function variants in the ATP2A2 gene and characterized by recurrent hyperkeratotic papules and plaques. These lesions may be mild or severe, and may be resistant to therapy. Additional somatic changes might impact the persistence of lesions in DD patients, the researchers wrote. Whole exome sequencing of ATP2A2 revealed germline and second-hit somatic variations of ATP2A2 in 6 of 6 patients with 8 persistent lesions. In addition, deep sequencing revealed two somatic variants in the persistent cutaneous l