Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm.

• 影响指数: 2.578
• 发表时间: 04 2020
• 来源期刊: Am J Med Genet A
• DOI: 10.1002/ajmg.a.61490
• PMID: 31961058
• 文章类型: Case Reports
• 中科院分区: Q3
• 方向: 生物
• 作者列表: Sheppard SE,Smith A,Grand K,Pogoriler J,Rubin AI,Schindewolf E,Fitzgerald MP,Moldenhauer J,Laje P,Peranteau W,Bhoj E,McMahon P,Castelo-Soccio L

关键词: NEK9; congenital pulmonary airway malformation of the lung; epidermal nevus; nevus comedonicus

Mesh: Aneurysm / physiopathology; Cystic Adenomatoid Malformation of Lung, Congenital / physiopathology; Humans; Infant; Male; Mutation; NIMA-Related Kinases / genetics; Nevus / genetics pathology; Phenotype; Pigmentation Disorders / genetics pathology; Skin Neoplasms / genetics pathology

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.