HURİYE EZVECI, SUKRAN DOGRU, FATİH AKKUS, KAZIM GEZGINC
Gynecology Obstetrics & Reproductive Medicine - 2024;30(1):19-24
OBJECTIVE: Harlequin ichthyosis (HI) is an autosomal-recessive inherited disorder. The incidence is extremely rare and is reported to range from 1/300 000 to 1/1 000 000. Some risk factors include preterm births and consanguinity. Prenatal DNA testing for the ABCA12 mutation aids in diagnosis. Although ul-trasonography helps the diagnosis, the diagnostic value of a single ultrasound is low. It is fatal for the affected newborn after the first few days after birth, but few long-term survivals have been recorded. The hallmark of with disease is severely keratinized skin. This study aims to evaluate the prenatal and post-natal outcomes of cases with HI. STUDY DESIGN: The study includes instances of HI that were diagnosed at the clinic throughout 20182023. The week of diagnosis, ultrasonographic findings, week of birth, and findings at the time of deliv-ery for all patients were acquired via electronic reports and archival data. Data regarding the condition of viable fetuses was acquired using telephonic means. RESULTS: The study included a total of five patients. There were prenatal ultrasonography findings in three cases. There were no prenatal ultrasound findings in the remaining two patients. Cordocentesis was applied to a single case using prenatal ultrasound diagnosis, and a normal genetic result was ob-tained. The remaining two cases refused to opt for the option of prenatal invasive testing. The termina-tion option was not accepted in three cases with an intrauterine diagnosis. Prenatal ultrasonography re-vealed features showing skin thickening, ectropion, eclabion, oligohydramnios, and fetal growth restric-tion (FGR). Histological examination results of fetal skin biopsies in three cases showed consistent find-ings of epidermolytic HI, thus confirming the diagnosis of HI. The histological diagnosis of the remaining two patients was inconclusive. All cases are alive. CONCLUSION: It is advisable to conduct a methodical evaluation based on the clinical manifestations of the condition during the third trimester of gestation to diagnose HI, particularly in instances where there is no familial predisposition.
