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Acitretin embryopathy: a case report
Pablo Barbero1, Vanesa Lotersztein, Ruben Bronberg
1Línea Salud Fetal, Servicio de Información de Agentes Teratogénicos, Centro Nacional de Genética Médica, Buenos Aires, Argentina. pablo@genes.gov.ar
Summary
Prenatal exposure to acitretin, a vitamin A derivative, can cause birth defects. This case highlights potential teratogenic effects even at lower doses, suggesting a common malformation pattern across related retinoids.
Area of Science:
- Teratology
- Pharmacology
- Developmental Biology
Background:
- Acitretin, an aromatic retinoid and vitamin A analog, belongs to a class of drugs known for teratogenic potential.
- While acitretin embryopathy has been documented, this report details effects observed in an infant following maternal exposure during early pregnancy.
Observation:
- An infant exposed to 10 mg/day of acitretin from conception to 10 weeks gestation presented with microcephaly, dysmorphic facial features (epicanthal folds, low nasal bridge, high palate, anteverted nostrils), atrial septal defect, and sensorineural deafness.
- At 18 months, the child exhibited persistent microcephaly and neurodevelopmental delay.
Findings:
- The observed anomalies share similarities with patterns seen in children exposed prenatally to isotretinoin and etretinate.
- Acitretin is partially converted to etretinate in vivo, and vice versa, suggesting a shared metabolic pathway and potential for similar teratogenic outcomes.
- Teratogenic effects were noted at a lower acitretin dose than previously reported, indicating potential sensitivity and variability in response.
Implications:
- This case supports the hypothesis that various retinoids, including acitretin, may induce a singular malformation syndrome with diverse phenotypic expressions.
- It underscores the critical need for stringent precautions regarding retinoid use during pregnancy due to significant teratogenic risks.
- Further research into retinoid metabolism and teratogenicity is warranted to better understand and mitigate risks associated with these potent medications.