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Retinoid Embryopathy

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Atlas of Genetic Diagnosis and Counseling
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Oral retinoids, isotretinoin (Accutane) and etretinate, uniquely effective in the treatment for severe cystic and keratinization disorders, are potent human teratogens.

Synonyms and Related Disorders

Isotretinoin embryopathy

Genetics/Basic Defects

  1. 1.

    Synthetic retinoids (isotretinoin, etretinate, acitretin)

    1. a.

      Closely resemble naturally occurring vitamin A, which is essential for the maintenance of visual and reproductive function and for proliferation and differentiation of epithelial tissues

    2. b.

      Isotretinoin and etretinate

      1. i.

        Released in the United States and Europe in 1982

      2. ii.

        Isotretinoin: uniquely effective in severe cystic acne

      3. iii.

        Etretinate (and acitretin): uniquely effective in severe psoriasis and other keratinization disorders which proved recalcitrant to all other therapies, account for their availability on prescription despite their teratogenicity

    3. c.

      Acitretin released later to replace etretinate as it is more rapidly eliminated from the body

      ...

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References

  • Abroms, L., Maibach, E., Lyon-Daniel, K., et al. (2006). What is the best approach to reducing birth defects associated with Isotretinoin? PLoS Medicine, 3, e483.

    Article  PubMed  Google Scholar 

  • Atanackovic, G., & Koren, G. (1999a). Fetal exposure to oral isotretinoin: Failure to comply with the Pregnancy Prevention Program. Canadian Medical Association Journal, 160, 1719–1720.

    PubMed  CAS  Google Scholar 

  • Atanackovic, G., & Koren, G. (1999b). Young women taking isotretinoin still conceive. Role of physicians in preventing disaster. Canadian Family Physician, 45, 289–292.

    PubMed  CAS  Google Scholar 

  • Braun, J. T., Franciosi, R. A., Mastri, A. R., et al. (1984). Isotretinoin dysmorphic syndrome. Lancet, 1, 506–507.

    Article  PubMed  CAS  Google Scholar 

  • Brinker, A., Trontell, A., & Beitz, J. (2002). Pregnancy and pregnancy rates in association with isotretinoin (Accutane). Journal of the American Academy of Dermatology, 47, 798–799.

    Article  PubMed  Google Scholar 

  • Chan, A., Hanna, M., Abbott, M., et al. (1996). Oral retinoids and pregnancy. The Medical Journal of Australia, 165, 164–167.

    PubMed  CAS  Google Scholar 

  • Crijns, H. J. M. J., Staus, S. M., Gispen-de Wied, C. H., et al. (2011). Compliance with pregnancy prevention programs of isotretinoin in Europe: A systemic review. British Journal of Dermatology, 164, 238–244.

    Article  PubMed  CAS  Google Scholar 

  • Dai, W. S., Hsu, M. A., & Itri, L. M. (1989). Safety of pregnancy after discontinuation of isotretinoin. Archives of Dermatology, 125, 362–365.

    Article  PubMed  CAS  Google Scholar 

  • Dai, W. S., LaBraico, J. M., & Stern, R. S. (1992). Epidemiology of isotretinoin exposure during pregnancy. Journal of the American Academy of Dermatology, 26, 599–606.

    Article  PubMed  CAS  Google Scholar 

  • de la Cruz, E., Sun, S., Vangvanichyakorn, K., et al. (1984). Multiple congenital malformations associated with maternal isotretinoin therapy. Pediatrics, 74, 428–430.

    PubMed  Google Scholar 

  • Ellis, C. N., & Krach, K. J. (2001). Uses and complications of isotretinoin therapy. Journal of the American Academy of Dermatology, 45, S150–S157.

    Article  PubMed  CAS  Google Scholar 

  • Fernhoff, P. M., & Lammer, E. J. (1984). Craniofacial features of isotretinoin embryopathy. Journal of Pediatrics, 105, 595–597.

    Article  PubMed  CAS  Google Scholar 

  • Goldsmith, L. A., Bolognia, J. L., Callen, J. P., et al. (2004). American Academy of Dermatology Consensus Conference on the safe and optimal use of isotretinoin: Summary and recommendations. Journal of the American Academy of Dermatology, 50, 900–906.

    Article  PubMed  Google Scholar 

  • Hansen, R. C. (1985). Accutane (isotretinoin) revisited: Severe birth defects from acne therapy. Arizona Medicine, 42, 363–365.

    PubMed  CAS  Google Scholar 

  • Holmes, S. C., Bankowska, U., & Mackie, R. M. (1998). The prescription of isotretinoin to women: Is every precaution taken? British Journal of Dermatology, 138, 450–455.

    Article  PubMed  CAS  Google Scholar 

  • Jahn, A. F., & Ganti, K. (1987). Major auricular malformations due to Accutane (isotretinoin). Laryngoscope, 97, 832–835.

    Article  PubMed  CAS  Google Scholar 

  • Jones, K. L., Adams, J., Chambers, C. D., et al. (2001). Isotretinoin and pregnancy. Journal of the American Medical Association, 285, 2079–2081.

    Article  PubMed  CAS  Google Scholar 

  • Kassis, I., Sunderji, S., & Abdul-Karim, R. (1985). Isotretinoin (Accutane) and pregnancy. Teratology, 32, 145–146.

    Article  PubMed  CAS  Google Scholar 

  • Koren, G., & Pastuszak, A. (1997). How to ensure fetal safety when mothers use isotretinoin (Accutane). Canadian Family Physician, 43, 216–219.

    PubMed  CAS  Google Scholar 

  • Lammer, E. J., Schunior, A., Hayes, A. M., et al. (1988). Isotretinoin dose and teratogenicity. Lancet, 2, 503–504.

    Article  PubMed  CAS  Google Scholar 

  • Lancaster, P. A. (1988). Teratogenicity of isotretinoin. Lancet, 2, 1254–1255.

    Article  PubMed  CAS  Google Scholar 

  • Mitchell, A. A., & Van Bennekom, C. M. (2003). Accutane and pregnancy. Journal of the American Academy of Dermatology, 49, 1201–1202.

    Article  PubMed  Google Scholar 

  • Mitchell, A. A., Van Bennekom, C. M., & Louik, C. (1995). A pregnancy-prevention program in women of childbearing age receiving isotretinoin. The New England Journal of Medicine, 333, 101–106.

    Article  PubMed  CAS  Google Scholar 

  • Nau, H. (2001). Teratogenicity of isotretinoin revisited: Species variation and the role of all-trans-retinoic acid. Journal of the American Academy of Dermatology, 45, S183–S187.

    Article  PubMed  CAS  Google Scholar 

  • Pastuszak, A., Koren, G., & Rieder, M. J. (1994). Use of the Retinoid Pregnancy Prevention Program in Canada: Patterns of contraception use in women treated with isotretinoin and etretinate. Reproductive Toxicology, 8, 63–68.

    Article  PubMed  CAS  Google Scholar 

  • Perlman, S. E., Leach, E. E., Dominguez, L., et al. (2001). Be smart, be safe, be sure. The revised Pregnancy Prevention Program for women on isotretinoin. Journal of Reproductive Medicine, 46, 179–185.

    PubMed  CAS  Google Scholar 

  • Pochi, P. E., Ceilley, R. I., Coskey, R. J., et al. (1988). Guidelines for prescribing isotretinoin (Accutane) in the treatment of female acne patients of childbearing potential. Acne Subgroup, Task Force on Standards of Care. Journal of the American Academy of Dermatology, 19, 920.

    Article  PubMed  CAS  Google Scholar 

  • Rappaport, E. B., & Knapp, M. (1989). Isotretinoin embryopathy-a continuing problem. Journal of Clinical Pharmacology, 29, 463–465.

    PubMed  CAS  Google Scholar 

  • Rizzo, R., Lammer, E. J., Parano, E., et al. (1991). Limb reduction defects in humans associated with prenatal isotretinoin exposure. Teratology, 44, 599–604.

    Article  PubMed  CAS  Google Scholar 

  • Shear, N. H. (1999). Oral isotretinoin: Prescribers beware. Canadian Medical Association Journal, 160, 1723–1724.

    PubMed  CAS  Google Scholar 

  • Stashower, M. E. (2003). Pregnancy rates associated with isotretinoin (Accutane) and the FDA. Journal of the American Academy of Dermatology, 49, 1202–1203.

    Article  PubMed  Google Scholar 

  • Strauss, J. S., Cunningham, W. J., Leyden, J. J., et al. (1988). Isotretinoin and teratogenicity. Journal of the American Academy of Dermatology, 19, 353–354.

    Article  PubMed  CAS  Google Scholar 

  • Strauss, J. S., Leyden, J. J., Lucky, A. W., et al. (2001). Safety of a new micronized formulation of isotretinoin in patients with severe recalcitrant nodular acne: A randomized trial comparing micronized isotretinoin with standard isotretinoin. Journal of the American Academy of Dermatology, 45, 196–207.

    Article  PubMed  CAS  Google Scholar 

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(2012). Retinoid Embryopathy. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_201

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