Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency.
Stella MazurovaMarketa TesarovaJiri ZemanViktor StraneckyHana HansikovaAlica BaxovaMaria GiertlovaJana LastuvkovaVanda ChovanovaSimona RusnakovaMaria KnapkovaGabriel MinarikTomas HonzikMartin MagnerPublished in: The Journal of dermatology (2020)
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.
Keyphrases
- epidermal growth factor receptor
- tyrosine kinase
- soft tissue
- advanced non small cell lung cancer
- small cell lung cancer
- wound healing
- young adults
- healthcare
- end stage renal disease
- chronic kidney disease
- prognostic factors
- early onset
- ejection fraction
- mitochondrial dna
- pain management
- genome wide
- patient reported outcomes
- quality improvement
- copy number