PA11: A Rare Case of Severe Papulopustular Dermatosis Secondary to a Germline EGFR Mutation

A Slovakian female neonate presented with severe papulopustular dermatosis due to a rare homozygous pathogenic missense loss-of-function mutation in the EGFR gene, c.1283G>A (p.Gly428Asp). This mutation is associated with severe neonatal skin fragility, ichthyosis, sparse hair, recurrent infections, and multisystem involvement, including craniofacial abnormalities. The patient, born preterm at 35 weeks, exhibited minimal scalp hair growth and recurrent MRSA infections. Despite the high mortality rate associated with this condition, the patient is now 4 years old and receiving multidisciplinary care. This case underscores the importance of genetic diagnosis in severe neonatal dermatoses and highlights the characteristic phenotype of germline EGFR loss of function.