Persistent Cutaneous Lesions of Darier Disease and Second-Hit Somatic Variants in ATP2A2 Gene
Lihi Atzmony,
Fadia Zagairy,
Banan Mawassi
et al.
Abstract:ImportanceDarier disease (DD) is a rare genetic skin disorder caused by heterozygous variants in the ATP2A2 gene. Clinical manifestations include recurrent hyperkeratotic papules and plaques that occur mainly in seborrheic areas. Although some of the lesions wax and wane in response to environmental factors, others are severe and respond poorly to therapy.ObjectiveTo investigate the molecular mechanism underlying the persistency of skin lesions in DD.Design, Setting, and ParticipantsIn this case series, DNA wa… Show more
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