Recessive mosaicism in ABCA12 causes a unique phenotype of segmental congenital ichthyosiform erythroderma mimicking erythrokeratodermia variabilis.

We report a unique case of a 1-year-old boy presenting with nonpruritic erythematous patches and mild keratotic plaques, partially following the lines of Blaschko and mainly involving the extremities. Next-generation sequencing (NGS) revealed a heter…

Preview only. Read the full abstract at the source