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Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency

S. Mazurova, M. Tesarova, J. Zeman, V. Stranecky, H. Hansikova, A. Baxova, M. Giertlova, J. Lastuvkova, V. Chovanova, S. Rusnakova, M. Knapkova, G. Minarik, T. Honzik, M. Magner

. 2020 ; 47 (6) : 663-668. [pub] 20200406

Language English Country Great Britain

Document type Journal Article, Observational Study

Persistent link   https://www.medvik.cz/link/bmc21012539

Grant support
PROGRES Q26/LF1 Charles University, Czech Republic
UNCE 204064 Charles University, Czech Republic
RVO-VFN64165/2012 Ministry of Health, Czech Republic

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.

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$a Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency / $c S. Mazurova, M. Tesarova, J. Zeman, V. Stranecky, H. Hansikova, A. Baxova, M. Giertlova, J. Lastuvkova, V. Chovanova, S. Rusnakova, M. Knapkova, G. Minarik, T. Honzik, M. Magner
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$a 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.
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$a Tesarova, Marketa $u Department of Pediatrics and Adolescent Medicine, General University Hospital, First Medical Faculty, Charles University, Prague, Czech Republic
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$a Zeman, Jiri $u Department of Pediatrics and Adolescent Medicine, General University Hospital, First Medical Faculty, Charles University, Prague, Czech Republic
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$a Stranecky, Viktor $u Department of Pediatrics and Adolescent Medicine, General University Hospital, First Medical Faculty, Charles University, Prague, Czech Republic
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$a Hansikova, Hana $u Department of Pediatrics and Adolescent Medicine, General University Hospital, First Medical Faculty, Charles University, Prague, Czech Republic
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$a Baxova, Alica $u Institute of Biology and Medical Genetics, General University Hospital, First Medical Faculty, Charles University, Prague, Czech Republic
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$a Lastuvkova, Jana $u Department of Medical Genetics, Masaryk Hospital in Usti nad Labem, Regional Health Corporation, Usti nad Labem, Czech Republic
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$a Chovanova, Vanda $u Department of Neonatology, Pediatric University Hospital, Kosice, Slovak Republic
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$a Rusnakova, Simona $u Department of Neonatology, Pediatric University Hospital, Kosice, Slovak Republic
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$a Knapkova, Maria $u Newborn Screening Center Slovak Republic, Children's University Hospital, Banska Bystrica, Slovak Republic
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$a Minarik, Gabriel $u Laboratory of Genetics, Medirex Inc., Bratislava, Slovak Republic
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$a Honzik, Tomas $u Department of Pediatrics and Adolescent Medicine, General University Hospital, First Medical Faculty, Charles University, Prague, Czech Republic
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$a Magner, Martin $u Department of Pediatrics and Adolescent Medicine, General University Hospital, First Medical Faculty, Charles University, Prague, Czech Republic $u Department of Pediatrics, Thomayer Hospital, First Medical Faculty, Charles University, Prague, Czech Republic
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