The urine as a diagnostic key for a homozygous EGFR mutation

Abstract

Primary inherited epidermal growth factor receptor defects have recently been described in severe inflammatory skin disease and diarrhoea case reports. We describe two case reports of female preterm newborns of Roma consanguineous parents who presented both with alopecia and erythroderma/ichthyosis, in addition to nephromegaly at birth in case 1. Later, they both developed hypomagnesaemia and other severe hydroelectrolyte disturbances, recurrent life-threatening sepsis and failure to thrive. Exome sequencing identified a homozygous mutation in the epidermal growth factor receptor, rarely described. Despite optimization of medical supportive care, the prognosis was poor and both patients died before the first year of life. There are few similar cases of epidermal growth factor receptor homozygous mutation reported so far. Our manuscript describes the genetics, clinical presentation, and complex treatment of our two patients, aiming to contribute to new advances in the management of this condition.