Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency |
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| Authors: | Stella Mazurova Marketa Tesarova Jiri Zeman Viktor Stranecky Hana Hansikova Alica Baxova Maria Giertlova Jana Lastuvkova Vanda Chovanova Simona Rusnakova Maria Knapkova Gabriel Minarik Tomas Honzik Martin Magner |
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| Affiliation: | 1. Department of Pediatrics and Adolescent Medicine, General University Hospital, First Medical Faculty, Charles University, Prague, Czech Republic;2. Institute of Biology and Medical Genetics, General University Hospital, First Medical Faculty, Charles University, Prague, Czech Republic;3. Laboratory of Clinical Genetics, Medirex Inc., Kosice, Slovak Republic;4. Department of Medical Genetics, Masaryk Hospital in Usti nad Labem, Regional Health Corporation, Usti nad Labem, Czech Republic;5. Department of Neonatology, Pediatric University Hospital, Kosice, Slovak Republic;6. Newborn Screening Center Slovak Republic, Children’s University Hospital, Banska Bystrica, Slovak Republic;7. Laboratory of Genetics, Medirex Inc., Bratislava, Slovak Republic |
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| 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. |
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| Keywords: | epidermal growth factor receptor ichthyosis neonate nephrocutaneous syndrome progeria |
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