De Novo Germline <i>L858R EGFR</i> Variants and Generalized Acanthosis Nigricans
The findings of this case series study define a syndromic disorder with increased risk of pulmonary disease and lung nodules in patients with acquired, generalized AN that is associated with activating EGFR variants. Pulmonary nodules are precursor lesions for lung cancer, and treatment with EGFR inhibitions is associated with near-complete resolution of skin and pulmonary disease. Early recognition of syndromic EGFR AN will permit identification of individuals at risk for systemic disease who are candidates for EGFR-targeted therapy.
Authors
- Joyce Teng (ORCID: https://orcid.org/0000-0002-1633-6807)
- Mark Jeng (ORCID: https://orcid.org/0000-0003-0854-761X)
- Elizabeth K. Fiorino (ORCID: https://orcid.org/0000-0001-6402-3410)
- Michael F. Walsh (ORCID: https://orcid.org/0000-0001-5006-6778)
- Andrew J. Plodkowski (ORCID: https://orcid.org/0000-0002-3772-370X)
- Mitra V. Mani
- Ryland D. Mortlock (ORCID: https://orcid.org/0000-0001-9666-4394)
- H. Yu
- N. Rekhtman
- Ramrada Lekwuttikarn (ORCID: https://orcid.org/0000-0003-2951-2571)
- Caroline Echeandia‐Francis
- Yuan Cheng (ORCID: https://orcid.org/0009-0002-3865-5291)
- Zhimiao Lin
- Zhou Yang
- Anna J. Podolanczuk
- Xingyuan Jiang
- Keith A. Choate
- Nelson Ugwu
Institutions
- Memorial Sloan Kettering Cancer Center (US)
- NewYork–Presbyterian Hospital (US)
- Regeneron (United States) (US)
- Peking University (CN)
- Cornell University (US)
- Yale University (US)
- Presbyterian Hospital (US)
- Peking University First Hospital (CN)
- Beijing Children’s Hospital (CN)
- Weill Cornell Medicine (US)
- Southern Medical University (CN)
- Stanford University (US)
Publication Details
- Journal
- JAMA Dermatology
- Published
- 2026-01-14
- DOI
- https://doi.org/10.1001/jamadermatol.2025.5414
- Primary Topic
- Skin Diseases and Diabetes
- Type
- article
- Field-Weighted Citation Impact
- 0.00