Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix.

Journal of medical genetics - 1 Mar 2017

Shah Khadim, Ansar Muhammad, Mughal Zaib-Un-Nisa, Khan Falak Sher, Ahmad Wasim, Ferrara Tracey M, Spritz Richard A

Abstract excerpt

BACKGROUND: Progressive symmetric erythrokeratoderma (PSEK) is a rare skin disorder characterised by symmetrically distributed demarcated hyperkeratotic plaques, often with associated palmoplantar hyperkeratosis, with new plaques appearing over time. Most cases are inherited in an autosomal dominant manner, although a few cases exhibit apparent autosomal recessive inheritance. OBJECTIVE: To identify the gene...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Exome
Share to Hair

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Homozygote

Share to Mutation, Missense

Share to Pakistan

Share to Sequence Deletion

Source

Identifiers

PMID: 27965375
DOI: 10.1136/jmedgenet-2016-104107

Genes

KRT83

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix.PMID 27965375Read ↗

A novel KRT86 mutation in a Turkish family with monilethrix, and identification of maternal mosaicism.Semantic proximity Read ↗

Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma.Semantic proximity Read ↗

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

Ichthyosis, psoriasiform dermatitis, and recurrent fungal infections in patients with biallelic mutations in PERP.Semantic proximity Read ↗

Progressive symmetrical erythrokeratoderma: report of a Turkish family and evaluation for loricrin and connexin gene mutations.Semantic proximity Read ↗

Nonsense mutations in KRT1 caused recessive epidermolytic palmoplantar keratoderma with knuckle pads.Semantic proximity Read ↗

Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis.Semantic proximity Read ↗

Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis.Semantic proximity Read ↗

Autosomal dominant SLURP1 variants cause palmoplantar keratoderma and progressive symmetric erythrokeratoderma.Semantic proximity Read ↗

Variable skin findings in two siblings with KDSR mutations manifesting in PERIOPTER syndrome.Semantic proximity Read ↗

Clinical and genetic characterization of Netherton syndrome due to SPINK5 founder variant in Latvian population.Semantic proximity Read ↗

Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese familiesSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.