Mutation analysis of interleukin-36RN gene in a child with erythroderma

A 2-year-old male child presented with recurrent diffuse desquamative red macules all over the body, without pustules or ulcers. The patient had repeated fever, which peaked at 39.3 ℃. The patient was diagnosed with erythroderma. Whole genome sequencing showed 2 compound heterozygous mutations (c.28C>T and c.368C>T) in the interleukin (IL) -36RN gene. The mutation c.28C>T was inherited from his father, leading to p.Arg10X and premature termination of amino acid transcription. The mutation c.368C>T was inherited from his mother, causing p.Thr123 Met. No mutation was found in the IL-1RN gene in the patient. The compound heterozygous mutations c.28C>T and c.368C>T may be responsible for erythroderma in this child. Key words: Dermatitis, exfoliative; Psoriasis; Interleukin-1; DNA mutational analysis; Interleukin-36 receptor antagonist