Palmoplantar keratoderma and erythrokeratodermas

Gene: KRT10

Green List (high evidence)

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.