VP04.17: Acitretin embryopathy due to acitretin intake during the first and second trimesters of pregnancy

Abstract

Acitretin is an aromatic retinoid analog of vitamin A used to treat severe forms of psoriasis and disorders of keratinisation. It is contraindicated during pregnancy because of its teratogenic potential. Acitretin embryopathy is a rare teratogenic disorder due to acitretin exposure during the 1st trimester, with a risk of fetal malformations of nearly 20% involving the central nervous system, various craniofacial and ear abnormalities, as well as cardiac, upper and lower limbs defects. Only a few cases of newborns with exposure to acitretin in the 1st trimester and anomalies compatible with this syndrome are known. We describe the case of a 24-year-old woman with epidermolytic hyperkeratosis, taking daily acitretin 25mg for many years. Pregnancy was unplanned, discovered at 18 weeks of gestation and very poorly monitored. She missed several appointments and inadvertently maintained acitretin intake until 30 weeks of pregnancy. When referred to our consultation at 32 weeks a fetal scan was requested. Ultrasound at 34 and 36 weeks exposed craniofacial malformations including prominent frontal bone, abnormal ears, low-set ears, low nasal bridge and absent hand finger. Fetal echocardiogram was normal. A female neonate was delivered at term with 2,515g and an Apgar score of 9/10/10. Evaluation at birth confirmed craniofacial dysmorphism with microcephaly, craniosynostosis, sinking of metopic sutures with prominent frontal bone, low nasal bridge, microphthalmia, hypertelorism, low-set ears, high-arched palate and limb defects with elbow arthrogryposis, absent 1st finger in both hands and 4th and 5th finger foot syndactyly. Brain MRI showed no endocranial abnormalities. These findings are in accordance to the spectrum of defects described in the literature for acitretin embryopathy. This case emphasises the extreme precaution that is needed with the use of teratogenic drugs in women of childbearing age and the importance of mandatory use of an effective contraception.