Homozygous Epidermal Growth Factor Receptor (EGFR) mutation is associated with neonatal inflammatory skin and bowel disease type 2.
We present the case of a preterm female infant with severe growth restriction and a severe and complex clinical course. She presented from birth with erosive and inflammatory skin lesions as well as several malformations (sparse scalp hair, craniofacial abnormalities, thin and long limbs, arachnodactyly, absence of subcutaneous fat, arthrogryposis and severe congenital heart disease). She developed recurrent skin and respiratory infections, failure to thrive, severe electrolyte imbalances and progressive heart failure. Neonatal inflammatory skin and bowel disease type 2 was suspected and directed genetic testing confirmed the presence of an EGFR gene mutation in homozygosity. Despite the optimization of medical therapy, the infant died of progressive cardiac failure at 3 months of age.