Nevus comedonicus (NC) is an organoid epidermal nevus first identified by Kofmann in 1895. 1 NC is characterized by monomorphic, large, open comedones occurring on a noninflammatory background and following the lines of Blaschko. In 1896, Selhorst described a NC variant featuring giant comedones, nodules, and cysts together with prominent inflammation and scarring. 2 Since then, hundreds of NC cases have been reported. In 1978, Engber framed a syndrome characterized by the association of a NC with extracutaneous abnormalities (NC syndrome [NCS]) based on a case report and review of previously published instances. 3 Given the rarity of NC and NCS, it is difficult to estimate the frequency of NCS. In a retrospective longitudinal study from Mexico comprising more than 400,000 pediatric patients, only five cases of NC were identified (0.84/100,000), of which three had NCS. 4 However, a 2012 review retrieved 349 cases of NC, of which 30 were NCS. 5 Also taking into consideration detection and publication biases, it can be inferred that NCS represents a very small fraction of NC cases. The cause of NC has been proven to be a gain-of-function, mosaic postzygotic mutation of the NEK9 gene. 6 Mutations in this gene have been confirmed as the cause of NCS as well. 7
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