1. Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency.
- Author
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Mazurova S, Tesarova M, Zeman J, Stranecky V, Hansikova H, Baxova A, Giertlova M, Lastuvkova J, Chovanova V, Rusnakova S, Knapkova M, Minarik G, Honzik T, and Magner M
- Subjects
- Adolescent, Child, Child, Preschool, Czech Republic epidemiology, Dentinogenesis Imperfecta diagnosis, Dentinogenesis Imperfecta genetics, ErbB Receptors deficiency, ErbB Receptors genetics, Heart Defects, Congenital diagnosis, Heart Defects, Congenital genetics, Homozygote, Humans, Ichthyosis diagnosis, Ichthyosis genetics, Infant, Infant, Newborn, Infant, Premature, Infant, Very Low Birth Weight, Kidney Diseases congenital, Kidney Diseases diagnosis, Kidney Diseases genetics, Loss of Function Mutation, Severity of Illness Index, Slovakia epidemiology, Syndrome, Exome Sequencing, Dentinogenesis Imperfecta mortality, Heart Defects, Congenital mortality, Ichthyosis mortality, Kidney Diseases mortality, Roma genetics
- Abstract
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., (© 2020 Japanese Dermatological Association.)
- Published
- 2020
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