1 - Neonatal Intensive Care Unit. Women, Children and Adolescents Department, Maternidade Dr. Alfredo da Costa, Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal
2 - Paediatrics Department, Hospital Vila Franca de Xira, Lisboa, Portugal 3- Department of Paediatrics, Hospital de Vila Franca de Xira, Vila Franca de Xira, Portugal
3 - Nephrology Unit, Children and Adolescents Department, Hospital Dona Estefânia, Centro Hospitalar Universitário Lisboa Central, Lisbon, Portugal
- Port J Nephrol Hypert 2022; 36(1): 15-19. http://doi.org/10.32932/pjnh.2022.03.177
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.
Palavras Chave: epidermal growth factor mutation, erythroderma, hypomagnesaemia, ichthyosis