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

• Autori principali: Mariana Lemos (Autore), Joana S. Gonçalves (Autore), Cátia R. Correia (Autore), Ana Teresa Maria (Autore)
• Natura: Libro
• Pubblicazione: Hygeia Press di Corridori Marinella, 2020-12-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

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 inflam...