Premium
Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency
Author(s) -
Mazurova Stella,
Tesarova Marketa,
Zeman Jiri,
Stranecky Viktor,
Hansikova Hana,
Baxova Alica,
Giertlova Maria,
Lastuvkova Jana,
Chovanova Vanda,
Rusnakova Simona,
Knapkova Maria,
Minarik Gabriel,
Honzik Tomas,
Magner Martin
Publication year - 2020
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/1346-8138.15317
Subject(s) - medicine , sepsis , dermatology , endocrinology , pediatrics
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.