Prenatal diagnosis of harlequin ichthyosis. Case report

Abstract

Harlequin ichthyosis, also known as diffuse fetal keratosis, is an extremely rare and
phenotypically severe hereditary skin disorder with autosomal recessive inheritance.
This disease is caused by mutations in the adenosine triphosphate-binding cassette
transporter protein (ABCA12) gene. Prenatal ultrasonography and genetic analysis
are important for prenatal diagnosis. Prenatal ultrasonographic diagnosis is difficult,
and findings include ectropion plates, an abnormal auricular pinna, a flat nose,
thickened skin with an armor-like appearance, thickened lips with sustained open
mouth (fish mouth) status, and flexion fixation of the extremities. These are usually
found during the third trimester. Three-dimensional ultrasonography contributes
to the evaluation of facial morphology. The prognosis is generally poor. Affected
neonates usually do not survive beyond the first days of life. A case of prenatal
diagnosis of harlequin ichthyosis is presented.