Persistent Cutaneous Lesions of Darier Disease and Second-Hit Somatic Variants in ATP2A2 Gene.

ABSTRACT:

Importance

Darier 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.

Objective

To investigate the molecular mechanism underlying the persistency of skin lesions in DD.

Design, setting, and participants

In this case series, DNA was extracted from unaffected skin, transient and persistent lesional skin, and blood from 9 patients with DD. Genetic analysis was used using paired-whole exome sequencing of affected skin and blood or by deep sequencing of ATP2A2 of affected skin. Chromosoma

SUBMITTER: Atzmony L 

PROVIDER: S-EPMC10974685 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature