The Epidermal Growth Factor Receptor (EGFR) belongs to the tyrosine kinase receptor family found on the surface of cells bound to EGF and other substances to promote cell proliferation. In adults, mutations in the EGFR gene located on chromosome 7p11 are linked to neoplastic disorders; however, mutations in children and newborns are infrequent and not extensively reported. The homozygous EGFR mutation has been linked to type 2 neonatal inflammatory skin and bowel illness .
The following case illustrates the clinical symptoms of this condition and its treatment. A 28-week-old preterm female infant was presented to a hospital with complaints of extremely sensitive skin, which was prone to erythema. Physical examination – (Figures 1-4) Alopecia Protuberant frontal and parietal bones Hypoplastic facial bones Down slanting palpebral fissures Slender and long limbs Arachnodactyly Lack of…
