Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm.
NEK9
congenital pulmonary airway malformation of the lung
epidermal nevus
nevus comedonicus
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
04 2020
04 2020
Historique:
received:
08
05
2019
revised:
18
12
2019
accepted:
03
01
2020
pubmed:
22
1
2020
medline:
4
2
2021
entrez:
22
1
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 31961058
doi: 10.1002/ajmg.a.61490
pmc: PMC8630880
mid: NIHMS1752745
doi:
Substances chimiques
NEK9 protein, human
EC 2.7.11.1
NIMA-Related Kinases
EC 2.7.11.1
Types de publication
Case Reports
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
746-754Subventions
Organisme : NCATS NIH HHS
ID : TL1 TR001880
Pays : United States
Informations de copyright
© 2020 Wiley Periodicals, Inc.
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