Ichthyosis: A Challenging Case Report

Background: 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 21^th weeks of gestation and an emergent caesarean section was performed at 33 weeks as fetal bradycardia was seen in continuos cardiotocography. At birth, she presented with dysmorphic facial features, general dermatosis and global alopecia with cutaneous fragility and erythema spots. Humeral fracture was diagnosed immediately after delivery. 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 (23.5% of birth weight). Due to the long-lasting polyuria together with the electrolyte changes she needed high fluid intakes and ion supplemented. She also had recurrent Staphylococcus aureus sepsis with 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 (EGFR) homozygous pathogenic 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 poor prognosis.