Neonatal Inflammatory Skin and Bowel Disease Type 2: A Case Report

Background: The homozygous EGFR mutation is associated with neonatal inflammatory skin and bowel disease type 2. So far only a hand few of cases have been reported.

Case Report: Preterm female infant, born at 28 weeks of gestation via emergency cesarean due to non-reassuring fetal status, weighing 650 grams. Her Apgar score was 4/7/7. She was intubated in the delivery room and transferred to the NICU. On physical examination she had several malformations (sparse scalp hair, craniofacial abnormalities, thin and long limbs, arachnodactyly, absence of subcutaneous fat, arthrogryposis) and a very fragile skin with extensive erythema. While in the NICU she required continuous mechanical ventilation due to bronchopulmonary dysplasia. She presented with recurrent infections, anemia and thrombocytopenia requiring multiple courses of antibiotics and transfusions. Echocardiography revealed a severe congenital heart disease with ventricular disproportion with hypoplastic left ventricle, severe aortic arch hypoplasia, complete atrioventricular septal defect and a patent ductus arteriosus. She developed persistent hypernatremia, hypokalemia, hypophosphatemia and severe hypomagnesemia requiring frequent replacement therapy. Cranial ultrasounds showed tetraventricular hydrocephalus with severe periventricular and subcortical white matter lesions, cerebellum atrophy and a mega cisterna magna. Genetic testing identified the c.1283G-A, p.(Gly428Asp) mutation in homozygosity, in exon 11 of the EGFR gene. At 3 months of post-menstrual age the infant died of progressive cardiac failure, despite optimization of medical therapy.

Conclusion: Homozygous EGFR mutation is associated with neonatal inflammatory skin and bowel disease type 2 which presents with a complex and severe phenotype and overall bad prognosis, with no reports of successful therapy. The inheritance of this disease seems to be autosomal recessive, and thus consanguinity is a high risk factor. With this case we expect to help characterizing this extremely rare syndrome. Neonatologists and pediatricians should consider EGFR mutation in neonates presenting with inflammatory skin disease from birth.