Isotretinoin embryopathy

=Isotretinoin Embryopathy = Isotretinoin embryopathy is a rare condition that occurs in infants who were exposed to isotretinoin, a medication primarily used to treat severe acne, during pregnancy. This condition is characterized by a range of congenital malformations and developmental issues.

Overview

Isotretinoin, also known by its brand name Accutane, is a powerful retinoid that is highly effective in treating severe nodular acne. However, it is also a potent teratogen, meaning it can cause birth defects if taken during pregnancy. The risk of isotretinoin embryopathy is significant, which is why strict guidelines are in place to prevent pregnancy during isotretinoin treatment.

Clinical Features

Infants with isotretinoin embryopathy may present with a variety of congenital anomalies, including:

• Craniofacial abnormalities: These can include microcephaly, microtia (small or absent ears), and cleft palate.
• Cardiac defects: Congenital heart defects are common in affected infants.
• Central nervous system malformations: These may include hydrocephalus and other brain abnormalities.
• Thymic and parathyroid gland abnormalities: These can lead to immune system and calcium regulation issues.

Pathophysiology

The teratogenic effects of isotretinoin are believed to be due to its influence on gene expression during embryonic development. Isotretinoin affects the retinoic acid signaling pathway, which is crucial for normal embryogenesis. Disruption of this pathway can lead to the malformations seen in isotretinoin embryopathy.

Diagnosis

Diagnosis of isotretinoin embryopathy is primarily clinical, based on the presence of characteristic congenital anomalies in an infant with known exposure to isotretinoin during pregnancy. Prenatal exposure can often be confirmed through maternal history.

Prevention

Prevention of isotretinoin embryopathy is of utmost importance. Women of childbearing potential who are prescribed isotretinoin must adhere to strict contraceptive measures and undergo regular pregnancy testing. The iPLEDGE program in the United States is an example of a risk management program designed to prevent fetal exposure to isotretinoin.

Management

There is no specific treatment for isotretinoin embryopathy. Management focuses on addressing the individual congenital anomalies and providing supportive care. Multidisciplinary teams, including pediatricians, cardiologists, neurologists, and surgeons, may be involved in the care of affected infants.

Prognosis

The prognosis for infants with isotretinoin embryopathy varies depending on the severity and combination of anomalies present. Some infants may have life-threatening conditions, while others may have milder forms of the disease.

See Also

• Teratogen
• Retinoic acid
• Congenital anomaly

External Links

• [iPLEDGE Program](https://www.ipledgeprogram.com)

NIH genetic and rare disease info

• NIH info on Isotretinoin embryopathy

Isotretinoin embryopathy is a rare disease.