Unusual Dermatologic Findings in an Extremely Low Birthweight Infant: The Genetic Diagnosis
November 2024
in “
NeoReviews
”
Studysummary This case report details an extremely low-birth-weight preterm neonate presenting with unique dermatologic symptoms, leading to a diagnosis of neonatal inflammatory skin and bowel disease due to a novel homozygous EGFR gene mutation, highlighting the importance of genetic testing in ambiguous cases.
Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer
An extremely low-birthweight (ELBW) preterm infant presented with unusual dermatologic findings, atypical hair features, and extremity abnormalities, leading to a diagnosis of autosomal recessive EGFR-related inflammatory skin and bowel disease. The infant, born at 28 weeks’ gestation, exhibited severe skin issues, electrolyte imbalances, and required intensive medical support. Genetic testing revealed novel pathogenic variants in the EGFR gene. Despite treatment, the infant experienced multiorgan failure and died at 6 weeks of age. This case highlights the importance of considering EGFR-related conditions in ELBW infants with unusual skin findings and the role of rapid genetic testing in diagnosis.
