ArticlePsoriasis (Auckland, N.Z.)2025
Acrodermatitis Continua of Hallopeau and Generalised Pustular Psoriasis: Case Reports of Two Different Manifestations of IL36RN Mutation in Siblings.
Article in Psoriasis (Auckland, N.Z.), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
In our manuscript, we present a case study of siblings with Generalized Pustular Psoriasis (GPP) and Acrodermatitis Continua of Hallopeau (ACH), both harboring IL36RN gene mutations. The 3-year-old proband exhibited systemic pustules leading to a GPP diagnosis, while his 6-year-old sister developed nail ulcers and subungual pustules characteristic of ACH. Despite standard treatments, their conditions were refractory. Genetic analysis revealed a homozygous splice variant c.115+6 T>C, with heterozygous parents. This case underscores the role of IL36RN mutations in pustular psoriasis and supports ACH as a localized form of the disease. The distinct subtypes in siblings with identical mutations suggest a complex pathogenesis influenced by additional factors. Our findings highlight the importance of genetic testing in pustular psoriasis and warrant further investigation into the phenotypic variability of IL36RN-related disease.
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