1 - Neonatal Intensive Care Unit. Women, Children and Adolescents Department, Maternidade Dr.Alfredo da Costa, Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal
2 - Medical Genetics Department, Hospital de Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal
3 - Nephrology Unit; Women, Children and Adolescents Department, Hospital Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal
4 - Department of Dermatology and Venereology, Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal
- European Academy of Paediatrics EAP 2019 Congress and MasterCours, 19-22/9/2019, Porto (E-poster)
Introdution: Inherited ichthyoses are a group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, and often associated with erythroderma. These manifestations are due to mutations in genes mostly involved in skin barrier formation, particularly in keratinization. Multiple causes have been associated with ichthyosis that may or may not be related to genetic syndromes.
Case report: A newborn female of inbreeding Roma parents was admitted to the Neonatal Intensive Care Unit due to prematurity (33w+6d) and low birth weight (895g). Intrauterine growth restriction was detected at 21th weeks of gestation and an emergent caesarean section was performed at 33 weeks as bradycardia was seen in continuous cardiotocography. At birth, she presented with a dysmorphic face, general dermatosis and global alopecia with cutaneous fragility and erythema spots. Humerus fracture was seen on the x-ray after birth. Since the first 24 hours of life she suffered from hydroelectrolyte imbalances with hypernatremic dehydration (maximum 167mmol/L) and hypokalemia (minimum 2.2mmol/L) associated with polyuria and later, hypomagnesemia (minimum 1.06mmol/L), hypocalcemia and hypophosphatemia. Simultaneously there was weight loss, maximum of 23.5% of birth weight. Due to the long-lasting polyuria together with the electrolyte changes she maintained total parenteral nutrition with high fluid intakes and ion supplemented. During the admission, she also presented with recurrent Staphylococcus aureus sepsis, fullfilling multiple prolonged antibiotic courses. It was requested Dermatology, Primary Immunodeficiency and Genetics collaboration and the genetic tests are still in course. We compared this case to a previous similar case back in 2017 presented with ichthyosis and severe hydroelectrolyte imbalances (including hypomagnesemia) born to consanguineous Roma parents, which is associated to epidermal growth factor receptor mutation.
Conclusion: Face and skin features together with ion imbalance and family history fit in EGFR mutation clinical cases. There is only a very few reported cases, all of them with a bad prognosis.
Keywords: hypokalemia, hypomagnesemia, ichthyosis, tubulopathy