Article

Molecular characterization of Porokeratosis in Tunisian patients with intraindividual and intrafamilial clinical heterogeneity

2023-04-06

Abstract excerpt

<h4>Background: </h4> Porokeratosis (PK) is a group of rare acquired or inherited clonal keratinization disorders characterized by annular or linear hyperkeratotic plaques with central atrophy and raised borders. Cornoid lamella is the common histological feature between PK forms. Genes of the mevalonate pathway are implicated in the pathogenesis of this pathology. To date, the exact underlying molecular mechanism...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: d31319a8-e609-5560-b5f2-d585c5567c65
DOI: 10.21203/rs.3.rs-2776351/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Molecular characterization of Porokeratosis in Tunisian patients with intraindividual and intrafamilial clinical heterogeneityDOI 10.21203/rs.3.rs-2776351/v1Read

Germline and somatic second-hit changes in porokeratosis: comprehensive variant spectrum and genotype-phenotype correlation analysis.Semantic proximity Read

Identifying Six Novel Genetic Variants and Alterations in Peripheral T-cell Subsets in Porokeratosis PatientsSemantic proximity Read

Updating and identifying a novel mutation in the PMVK gene in classic porokeratosis of Mibelli.Semantic proximity Read

Gene-specific somatic epigenetic mosaicism of FDFT1 underlies a non-hereditary localized form of porokeratosis.Semantic proximity Read

Further evidence of the clinical and genetic heterogeneity of recessive transgressive PPK in the Mediterranean region.Semantic proximity Read

Particular Mal de Meleda phenotypes in Tunisia and mutations founder effect in the Mediterranean region.Semantic proximity Read

Porokeratosis Plantaris, Palmaris et Disseminata Caused by Con- genital Pathogenic Variants in the MVD Gene and Loss of Hetero-zygosity in Affected Skin.Semantic proximity Read

Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis-Like Autosomal Recessive Congenital Ichthyosis.Semantic proximity Read

Mutations in the mevalonate pathway genes in Chinese patients with porokeratosis.Semantic proximity Read

A novel missense mutation in the gene encoding SLURP-1 in patients with Mal de Meleda from northern Tunisia.Semantic proximity Read

Second-Hit Somatic Mutations in Mevalonate Pathway Genes Underlie PorokeratosisSemantic proximity Read

Mutations in mevalonate pathway genes in patients with familial or sporadic porokeratosis.Semantic proximity Read