Ichthyosis and erythrokeratoderma
Gene: KRT10Comment on phenotypes: Previous phenotypes:
Epidermolytic hyperkeratosis (EHK), 113800;erythroderma, prominent scale, and palmoplantar keratoderma;ichthyosis with confetti, 609165;Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602Created: 23 Mar 2021, 3:15 p.m. | Last Modified: 23 Mar 2021, 3:15 p.m.
Panel Version: 1.34
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.
Phenotypes for gene: KRT10 were changed from Epidermolytic hyperkeratosis (EHK), 113800; erythroderma, prominent scale, and palmoplantar keratoderma; ichthyosis with confetti, 609165; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 to Epidermolytic hyperkeratosis (EHK), OMIM:113800; ichthyosis with confetti, OMIM:609165; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, OMIM:607602
gene: KRT10 was added gene: KRT10 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: KRT10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT10 were set to Epidermolytic hyperkeratosis (EHK), 113800; erythroderma, prominent scale, and palmoplantar keratoderma; ichthyosis with confetti, 609165; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602