Keratotic macules and plaques with mild erythema in deficiency of interleukin 36 receptor antagonist cases with monoallelic pathogenic variants of IL36RN.

Classic deficiency of interleukin-36 (IL-36) receptor antagonist (DITRA) is characterized by severe, recurrent generalized pustular psoriasis (GPP) with systemic inflammation and is typically caused by biallelic IL36RN variants. However, monoallelic c.115+6T>C and c.28C>T variants of IL36RN have also been reported to underlie DITRA. To the best of our knowledge, no cases of a heterozygous IL36RN c.28C>T variant presenting with the unilateral localization of symptoms have been reported. Our present case emphasize that IL36RN-related disease should be considered even with the atypical skin symptoms, thereby broadening the spectrum of DITRA.