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Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm |
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| Authors: | Sarah E. Sheppard Anna Smith Katheryn Grand Jennifer Pogoriler Adam I. Rubin Erica Schindewolf Mark P. Fitzgerald Julie Moldenhauer Pablo Laje William Peranteau Elizabeth Bhoj Patrick McMahon Leslie Castelo‐Soccio |
| Affiliation: | 1. https://orcid.org/0000-0003-3480-8123;2. Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania;3. Sarah Sheppard, 3401 Civic Center Boulevard, The Richard Wood Pediatric Ambulatory Care Center, Room 4020, Philadelphia, PA 19104.;4. Division of Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania;5. Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania;6. Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania;7. Department of Dermatology, Division of Dermatopathology, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania;8. Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania;9. Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania;10. Division of General, Thoracic, and Fetal Surgery, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| Abstract: | 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 scalp, face, and body consistent with nevus comedonicus. MRI of the brain demonstrated an aneurysm of the right internal carotid artery. Genetic testing identified NEK9 c.1755_1757del (p.Thr586del) at mean allele frequency of 28% in the nevus comedonicus. This same mutation was present in the CPAM tissue. This is the first case of a CPAM in a patient with an epidermal nevus syndrome. This case expands the phenotype of nevus comedonicus syndrome to include CPAM and vascular anomalies. |
| Keywords: | congenital pulmonary airway malformation of the lung epidermal nevus NEK9 nevus comedonicus |