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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
Author(s) -
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,
CasteloSoccio Leslie
Publication year - 2020
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61490
Subject(s) - medicine , hamartoma , pathology , lung , nevus , scalp , aneurysm , family history , dermatology , radiology , melanoma , cancer research
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.