Novel homozygous pathogenic <i>AP1B1</i> variant in autosomal recessive keratitis-ichthyosis-deafness syndrome treated with acitretin

We report a female in her early childhood with autosomal recessive keratitis-ichthyosis-deafness (KID) syndrome, presenting with congenital erythroderma, sensorineural deafness and developmental delays. Genetic analysis revealed a novel homozygous pathogenic variant in the <i>AP1B1</i> gene. Initiation of acitretin therapy led to significant dermatologic improvement without adverse effects so far. This case underscores the rarity of autosomal recessive KID syndrome and highlights acitretin's potential as a therapeutic option.