Neonatal inflammatory skin and bowel disease type 2: a very rare disease associated with EGFR mutation

• DOI: 10.7363/100123
• Publication Date: 2020-12-01
• Authors: Mariana Lemos; Joana S. Gonçalves; Cátia Correia; Ana Teresa Maria
• Keywords: neonatal; egfr; R; rare disease; Medicine; genetics; mutation; Pediatrics; RJ1-570

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 severe growth restriction complex clinical course. She presented from birth erosive lesions as well several malformations (sparse scalp hair, craniofacial abnormalities, thin long limbs, arachnodactyly, absence subcutaneous fat, arthrogryposis congenital heart disease). developed recurrent respiratory infections, failure to thrive, electrolyte imbalances progressive failure. Neonatal 2 was suspected directed genetic testing confirmed presence an EGFR gene in homozygosity. Despite optimization medical therapy, died cardiac at 3 months age.