Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency.
Adolescent
Child
Child, Preschool
Czech Republic
/ epidemiology
Dentinogenesis Imperfecta
/ diagnosis
ErbB Receptors
/ deficiency
Heart Defects, Congenital
/ diagnosis
Homozygote
Humans
Ichthyosis
/ diagnosis
Infant
Infant, Newborn
Infant, Premature
Infant, Very Low Birth Weight
Kidney Diseases
/ congenital
Loss of Function Mutation
Roma
/ genetics
Severity of Illness Index
Slovakia
/ epidemiology
Syndrome
Exome Sequencing
epidermal growth factor receptor
ichthyosis
neonate
nephrocutaneous syndrome
progeria
Journal
The Journal of dermatology
ISSN: 1346-8138
Titre abrégé: J Dermatol
Pays: England
ID NLM: 7600545
Informations de publication
Date de publication:
Jun 2020
Jun 2020
Historique:
received:
12
12
2019
revised:
05
02
2020
accepted:
19
02
2020
pubmed:
7
4
2020
medline:
16
3
2021
entrez:
7
4
2020
Statut:
ppublish
Résumé
Epidermal growth factor receptor (EGFR) is a transmembrane glycoprotein with tyrosine-kinase signaling activity, involved in many cellular functions including cell growth and differentiation. Germ line loss-of-function mutations in EGFR lead to a severe neonatal skin disorder (Online Mendelian Inheritance in Man #131550). We report 18 premature Roma children from 16 families with birthweights ranging 440-1470 g and multisystem diseases due to the homozygous mutation c.1283G˃A (p.Gly428Asp) in EGFR. They presented with thin, translucent, fragile skin (14/15), skin desquamation (10/17), ichthyosis (9/17), recurrent skin infections and sepsis (9/12), nephromegaly (10/16) and congenital heart defects (7/17). Their prognosis was poor, and all died before the age of 6 months except one 13-year-old boy with a severe skin disorder, dentinogenesis imperfecta, Fanconi-like syndrome and secondary hyperaldosteronism. Management of ion and water imbalances and extremely demanding skin care may improve the unfavorable outcome of such patients.
Identifiants
pubmed: 32250467
doi: 10.1111/1346-8138.15317
doi:
Substances chimiques
EGFR protein, human
EC 2.7.10.1
ErbB Receptors
EC 2.7.10.1
Types de publication
Journal Article
Observational Study
Langues
eng
Sous-ensembles de citation
IM
Pagination
663-668Subventions
Organisme : Charles University, Czech Republic
ID : PROGRES Q26/LF1
Organisme : Charles University, Czech Republic
ID : UNCE 204064
Organisme : Ministry of Health, Czech Republic
ID : RVO-VFN64165/2012
Informations de copyright
© 2020 Japanese Dermatological Association.
Références
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