Publications by authors named "Sachin N Patil"
J Invest Dermatol
October 2014
Article Synopsis
- Aberrant EGFR signaling plays a crucial role in maintaining tissue health, and its disruption is linked to inflammatory and cancerous conditions, though no inherited EGFR defects had been documented until this case.
- A unique mutation (p.Gly428Asp) in EGFR was found in a male infant who faced severe, lifelong inflammation affecting his skin, bowel, and lungs, leading to notable skin lesions similar to those from EGFR inhibitor treatments.
- The child's diagnosis revealed altered EGFR function and signaling in his skin cells, and despite efforts to understand and address his condition, he tragically died at 2.5 years due to complications from infections and electrolyte imbalances.
