De Novo Germline Variants and Generalized Acanthosis Nigricans

Is early-onset severe generalized acanthosis nigricans (AN) associated with an increased risk of systemic disease?In this case series study of 3 individuals with AN, using whole-exome sequencing (WES), recurrent de novo epidermal growth factor receptor () variants were identified in 2 patients with acquired, severe generalized AN that was associated with pulmonary nodules and progressive pulmonary disease for 1 patient. Skin and pulmonary disease improved with inhibitor treatment.The study results suggest that variants are associated with severe generalized AN and pulmonary disease that can be treated with inhibitors.

Corresponding Authors: Keith A. Choate, MD, PhD, 333 Cedar St, PO Box 208059, New Haven, CT 06520 (keith.choate@yale.edu); and Zhimiao Lin, MD, No. 2 Lujing Rd, Yuexiu District, Guangzhou 510091, China (zhimiaolin@bjmu.edu.cn).

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