# Characterizing superficial epidermolytic ichthyosis in a patient with KRT2 mutation responsive to ustekinumab

**Authors:** Mallory Zaino, Jordan Jones, Ronghua Hu, Keith Choate, Jeffrey P. Callen, Courtney R. Schadt

PMC · DOI: 10.1016/j.jdcr.2026.01.028 · JAAD Case Reports · 2026-01-27

## Full-text entities

- **Genes:** IL23A (interleukin 23 subunit alpha) [NCBI Gene 51561] {aka IL-23, IL-23A, IL23P19, P19, SGRF}, KRT2 (keratin 2) [NCBI Gene 3849] {aka CK-2e, K2e, KRT2A, KRT2E, KRTE}
- **Diseases:** erythema (MESH:D004890), Ichthyosis (MESH:D007057), ichthyosiform erythrodermic (MESH:D016113), Keratoderma (MESH:D007645), ichthyosis with confetti (OMIM:609165), genetic epidermal differentiation disorders (MESH:D030342), psoriasis (MESH:D011565), inflammatory (MESH:D007249), SEI (MESH:D017488)
- **Chemicals:** chloroform (MESH:D002725), lipid (MESH:D008055), dupilumab (MESH:C582203), cyclosporine (MESH:D016572), phenol (MESH:D019800), methotrexate (MESH:D008727), secukinumab (MESH:C555450), ustekinumab (MESH:D000069549)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** c. 1462G>A

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## References

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Source: https://tomesphere.com/paper/PMC12954180