What question did this study set out to answer?

To report a case of deficiency of interleukin-36 receptor antagonist (DITRA) with an atypical presentation.

June 2, 20260 citationsOpen Access

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

MOMichiya Omi TTTakuya Takeichi KTKana Tanahashi

Key Points

To report a case of deficiency of interleukin-36 receptor antagonist (DITRA) with an atypical presentation.
Case report of a patient with monoallelic IL36RN variants.
Clinical examination to identify skin symptoms and their localization.
A patient exhibited unilateral keratotic macules and plaques.
The case involved IL36RN c.28C>T variant, previously unreported in this context.
Findings suggest that IL36RN-related conditions should be considered even with atypical presentations.

Abstract

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.

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