# Carrier of a pathogenic LAMB3 variant: Exploring the interface of genetic skin fragility and cutaneous autoimmunity

**Authors:** Ashley Jakubowicz, Emily R. Nadelmann, Michael A. Occidental, Tobi Klar

PMC · DOI: 10.1016/j.jdcr.2026.01.034 · JAAD Case Reports · 2026-02-02

## Full-text entities

- **Genes:** mucin [NCBI Gene 100508689], LAMB3 (laminin subunit beta 3) [NCBI Gene 3914] {aka AI1A, BM600-125KDA, JEB1A, JEB1B, LAM5, LAMNB1}
- **Diseases:** eruptions (MESH:D003875), skin fragility (MESH:C536183), atrophic (MESH:D020966), DLE (MESH:D008179), inflammatory (MESH:D007249), blistering (MESH:D001768), Granuloma annulare (MESH:D016460), autoimmune skin conditions (MESH:D012871), JEB (MESH:D016109), cutaneous lupus (MESH:D008178), systemic lupus erythematosus (MESH:D008180), pruritic lesions (MESH:C535817), Polymorphic light eruption (MESH:C566780), autoimmune (MESH:D001327), lichenoid interface dermatitis (MESH:D003872)
- **Chemicals:** PASD (-), Periodic acid (MESH:D010504), Alcian Blue (MESH:D000423)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** c.1903C>T, p.R635*

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## References

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Source: https://tomesphere.com/paper/PMC12964227