Congenital Cataract and Slowly Progressing Facial Skin Lesions in a 5-Year-Old Boy

A 5-year-old boy presented with asymptomatic skin lesions on his face and a congenital cataract in his right eye, diagnosed at 10 months. The diagnosis was Nevus Comedonicus Syndrome (NCS), a rare condition characterized by nevus comedonicus with systemic manifestations, often involving the eye and/or skeleton. In this case, the congenital cataract was the predominant extracutaneous manifestation. NCS is linked to somatic gain-of-function mutations in the NEK9 gene. Treatment options are primarily aesthetic, with no effective standard treatment. Genetic testing was recommended but not performed due to the lack of immediate consequences.