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.
- MeSH
- dentinogenesis imperfecta diagnóza genetika mortalita MeSH
- dítě MeSH
- erbB receptory nedostatek genetika MeSH
- homozygot MeSH
- ichtyóza diagnóza genetika mortalita MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- mutace ztráty funkce MeSH
- nemoci ledvin vrozené diagnóza genetika mortalita MeSH
- novorozenec nedonošený MeSH
- novorozenec s velmi nízkou porodní hmotností MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- Romové genetika MeSH
- sekvenování exomu MeSH
- stupeň závažnosti nemoci MeSH
- syndrom MeSH
- vrozené srdeční vady diagnóza genetika mortalita MeSH
- Check Tag
- dítě MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- Publikační typ
- časopisecké články MeSH
- pozorovací studie MeSH
- Geografické názvy
- Česká republika MeSH
- Slovenská republika MeSH
