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Article

A case of revertant mosaic-like normal-looking spots in a patient with erythroderma with IL36RN and CARD14 heterozygous mutations.

The Journal of dermatology - 1 Dec 2024

Matsuo Maho, Zang Xiaoyu, Miyauchi Toshinari, Mizutani Yoko, Niwa Hirofumi, Tanaka Kayoko, Iwata Hiroaki

Abstract excerpt

An 89-year-old Japanese woman presented with erythroderma associated with significant scaling. A histological examination showed acanthosis with hyperkeratosis and hyperkeratinization of the hair follicles. Genetic analyses using DNA from the peripheral blood revealed heterozygous mutations in IL36RN (c.115+6T>C) and CARD14 c.2648G>A (p.Arg883His). Based on these findings, we diagnosed her with erythroderma...

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PMID: 39373130
DOI: 10.1111/1346-8138.17498
PMCID: PMC11624151

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