Article
Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm.
American journal of medical genetics. Part A - 1 Apr 2020
Sheppard Sarah E, Smith Anna, Grand Katheryn, Pogoriler Jennifer, Rubin Adam I, Schindewolf Erica, Fitzgerald Mark P, Moldenhauer Julie, Laje Pablo, Peranteau William, Bhoj Elizabeth, McMahon Patrick, Castelo-Soccio Leslie
Abstract excerpt
Nevus comedonicus syndrome (NCS) is a rare epidermal nevus syndrome characterized by ocular, skeletal, and central nervous system anomalies. We present a 23-month-old boy with a history of a congenital pulmonary airway malformation (CPAM) of the lung and a congenital cataract who developed progressive linear and curvilinear plaques of dilated follicular openings with keratin plugs (comedones) on parts of his...
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