Palmoplantar keratoderma and erythrokeratodermasGene: KRT10
Comment on list classification: Updated rating from Red to Green after discussion with Helen Brittain: although the initial features of EHK are erythema and blistering, hyperkeratosis follows and is specifically listed in relation to the palms and soles. Therefore appropriate to include to capture the broadest differential. Sufficient unrelated cases (>3) to support causation.
Created: 3 Apr 2017, 11:35 a.m.
Sufficient cases to support causation of epidermolytic hyperkeratosis (EHK, MIM:113800).
Created: 23 Mar 2017, 11:01 a.m.
A mother and son with epidermolytic hyperkeratosis (OMIM:113800), Rothnagel et al. (1992, PMID:1380725) demonstrated a T-to-C transition in codon 15 of KRT10, resulting in a serine for leucine substition. Both affected persons showed widespread hyperkeratosis and palmoplantar keratoderma.
Created: 9 Jan 2017, 4:24 p.m.
Choate et al. (2010, PMID:20798280) summarize the clinical features of ichthyosis with confetti (IWC, OMIM: 609165), a very rare, sporadic severe skin disease in which affected subjects are born with erythroderma owing to defective skin barrier function, prominent scale, and palmoplantar keratoderma.
Created: 9 Jan 2017, 4:22 p.m.
Promoted to Version 1, April 11th 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for KRT10 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene KRT10 were set to ichthyosis with confetti, 609165; erythroderma, prominent scale, and palmoplantar keratoderma; Epidermolytic hyperkeratosis (EHK), 113800; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602
KRT10 was created by rfoulger
KRT10 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Other