Second-Hit, Postzygotic PMVK and MVD Mutations in Linear Porokeratosis.

ABSTRACT:

Importance

Linear porokeratosis features linear and whorled configurations of keratotic papules and plaques, with coronoid lamellae present on histologic examination. Because linear porokeratosis manifests in the lines of Blaschko representing the dorsoventral migration patterns of keratinocyte precursors, it has been suggested that postzygotic somatic mutation underlies the disease. However, no genetic evidence has supported this hypothesis to date.

Objective

To identify genetic mutations associated with linear porokeratosis.

Design, setting, and participants

Paired whole-exome sequencing of affected skin and blood/saliva samples from 3 participants from 3 academic medical centers with clinical and histologic diagnoses of linear porokeratosis.

Interventions or exp

SUBMITTER: Atzmony L 

PROVIDER: S-EPMC6506890 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature