We report on a 3-month-old female patient presenting with bilateral anonychia of the thumbnails and hyponychia of the index nails. Clinico-dermoscopic examination revealed triangular lunulae in all fingernails. Sequence analysis of LMX1B gene identified a novel heterozygous de novo mutation within exon 2, pathogenetic for a nail-patella syndrome. Pediatric Dermatology anterior segment of the eye, dopaminergic neurons in the central nervous system, and renal podocytes in the glomerular basement membrane. Heterozygous loss-of-function mutations in LMX1B can cause pleiotropic NPS phenotype (OMIM 161200). 2,3 In our patient, nail dermoscopy allowed us to better characterize the lamina structure with ridging and the lunulae morphology, and the tip reached half the length of the nail plate. The de novo mutation detected in our patient has not been described before. However, Dunston et al reported that the substitution of the same cysteine residue with a serine as a pathogenetic variant of NPS. 3 Further studies with a larger cohort of patients are needed to establish genotype: phenotype correlations and to confirm whether this mutation is associated with a mild phenotype with a predominant or exclusive nail involvement as in our patient. Collaboration between pediatricians, geneticists, and dermatologists is needed to promptly identify characteristic nail changes suggestive of NPS to ensure proper workup, specifically early detection of renal involvement.