RT Journal Article
SR Electronic
T1 Congenital ichthyosis: a multidisciplinary approach in a neonatal care unit
JF BMJ Case Reports
JO BMJ Case Reports
FD BMJ Publishing Group Ltd
SP e250077
DO 10.1136/bcr-2022-250077
VO 16
IS 2
A1 Joana Valente Dias
A1 Kátia Cardoso
A1 Sara Noéme Prado
A1 Hugo Cavaco
YR 2023
UL http://casereports.bmj.com/content/16/2/e250077.abstract
AB Congenital ichthyoses are a rare group of genetic disorders caused by defects in the two outermost skin layers, resulting in an abnormal barrier function. We report the case of a male preterm neonate presenting at delivery with thickened and scaling skin, ectropium and eclabium. Supportive care aiming at improving skin condition and handling possible complications was provided. Following gradual clinical improvement, he was discharged after 27 days. Molecular testing identified mutations in a gene encoding lipoxygenase (ALOX12B), associated with autosomal recessive congenital ichthyosis. This case highlights an uncommon disease that can determine significant morbidity and mortality in the first few weeks of life. Management of this complex disease benefits from a multidisciplinary approach. Molecular studies allow a more accurate diagnosis and enable genetic counselling.