Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm.
Publication/Presentation Date
4-1-2020
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.
Volume
182
Issue
4
First Page
746
Last Page
754
ISSN
1552-4833
Published In/Presented At
Sheppard, S. E., Smith, A., Grand, K., Pogoriler, J., Rubin, A. I., Schindewolf, E., Fitzgerald, M. P., Moldenhauer, J., Laje, P., Peranteau, W., Bhoj, E., McMahon, P., & Castelo-Soccio, L. (2020). 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, 182(4), 746–754. https://doi.org/10.1002/ajmg.a.61490
Disciplines
Medicine and Health Sciences | Pediatrics
PubMedID
31961058
Department(s)
Department of Pediatrics
Document Type
Article