Abnormal Fibroblasts Drive Pigmentary Skin Lesions in a Mouse Model of Carney Complex

Abstract

Carney complex (CNC) is a rare autosomal dominant tumor predisposition syndrome that features focal skin pigmentation, myxomas, endocrine overactivity, and pigmented schwannomas (Carney et al., 1985). Abnormal skin pigmentation is seen in >80% of patients with the syndrome. Although lentiginosis in the central face, lips, and other areas (e.g., inside the mouth, canthus of the eyes, external genitalia) is the most common finding (Figure 1), individuals may also have Spitz, blue, or other nevi (Saggini and Brandi, 2011).