ArticleAmerican journal of medical genetics. Part A2020
Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm.
Article in American journal of medical genetics. Part A, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 13 citations in OpenAlex.
- Congenital Pulmonary Airway Malformations in Children: Beyond the Pulmonary Cystic Lesion Is There Really an Associated Laryngo-Tracheal Abnormality?Pediatric pulmonology · 2026Review
- Cystic masses of the pediatric lung: update on congenital pulmonary airway malformation and its differential diagnosis.Virchows Archiv : an international journal of pathology · 2025Review
- Defining the spatial landscape of KRAS mutated congenital pulmonary airway malformations: a distinct entity with a spectrum of histopathologic features.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Article
- Novel variants ofFrontiers in genetics · 2022Article
- Rolled Hairs in Two Cases of Naevus Comedonicus of the Scalp.Acta dermato-venereologica · 2021Article
- Genetic skin disorders: The value of a multidisciplinary clinic.American journal of medical genetics. Part A · 2021Article
Corrections and comments
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Authors and funding
13 authors at 1 institution in 1 country.
Funding
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.
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