Congenital ichthyosis: a multidisciplinary approach in a neonatal care unit.
BMJ Case Rep
; 16(2)2023 Feb 28.
Article
em En
| MEDLINE
| ID: mdl-36854483
ABSTRACT
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.
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MEDLINE
Assunto principal:
Eritrodermia Ictiosiforme Congênita
/
Ictiose Lamelar
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article