Isotretinoin embryopathy
Looking for:
Fetal retinoid syndrome - About the Disease - Genetic and Rare Diseases Information Center - How to Cite |
Isotretinoin embryopathy. Current Trends Birth Defects Caused by Isotretinoin -- New Jersey
Orphanet: Isotretinoin syndrome.Current Trends Birth Defects Caused by Isotretinoin -- New Jersey
Clinical signs. To get in touch with the Orphanet team, please contact Information provided in your contribution including your email address will be stocked in. Check this box if you wish to receive a copy of your message. Disease definition A rare tetrogenic embryofetopathy due to exposure to isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne.
Additional information Further information on this disease Classification s 5 Gene s 0 Clinical signs and symptoms Other website s 3. Affected infants may present craniofacial, central nervous system, cardiac, and thymus abnormalities.
There is also an increased risk of spontaneous abortions and premature delivery. The authors present the case of an infant male who was the first child of young, healthy, unrelated parents, whose mother was exposed to isotretinoin in both pregestational and gestational periods.
He had a developmental delay, craniofacial abnormalities low-set and dysplastic ears with anteverted lobules, frontal upsweep, hypertelorism, flat nasal bridge and prominent filter and apparent articular hypermobility, more obvious in his knees. Brain magnetic resonance imaging showed absence of cerebellar vermis, midbrain dysplastic configuration with thickened superior cerebellar peduncles, decreased thickness of pons-midbrain transition, right cerebellar hemisphere dysplasia, mild decrease in corpus callosum thickness, and enlarged pericerebral subarachnoid space.
The infant had dysplastic external ears and hydrocephalus, which was treated with a ventriculo- peritoneal shunt. This abnormality is thought to be secondary to an intraventricular hemorrhage during the early neonatal period. Case 4: In January , a full-term male infant weighing 3, g was born with dysplastic ears and hearing loss.
His mother had been treated with isotretinoin during the first trimester of pregnancy. Isotretinoin was recognized as an animal teratogen before it was first marketed in September A statement to that effect was included in the package insert. In June , human teratogenicity was reported to FDA and to the public 2.
Subsequent reports have documented a strong association between a characteristic group of birth defects and exposure to isotretinoin during the first weeks of gestation 3,4. These defects include external ear malformations, cleft palate, micrognathia, conotruncal heart defects, ventricular septal defects, aortic-arch malformations, and certain brain malformations 3.
In one prospective follow-up study, eight of 36 pregnancies that were exposed to isotretinoin resulted in spontaneous abortions during the first trimester; four resulted in live-born infants with at least one major malformation; one, in a malformed stillborn infant; and 23, in infants without major malformations 3.
This study found a relative risk of Etretinate also carries Category X labeling. Measurable serum concentrations of this drug have been documented more than 2 years after cessation of therapy 5 , and the risk of teratogenicity may extend for an indefinite period of time after therapy 6.
Isotretinoin embryopathy is a preventable syndrome, and the number of infants born with these problems can be reduced by following the guidelines developed cooperatively by FDA and the manufacturer, Hoffmann-La Roche, Inc. This information is distributed in the form of package inserts and patient information leaflets. A summary of these guidelines follows:. We recommend speaking with a doctor to learn more about this disease.
Reference: Access aggregated data from Orphanet at Orphadata. Orphanet is an online database of rare diseases and orphan drugs. Reference: Download data from HPO. Data from the National Center for Biotechnology Information's MedGen is used to provide genetic testing information available for a disease. Improving newborn screening laboratory test ordering and result reporting using health information exchange.
❾-50%}.
Check this box if you wish to receive a copy of your message. Disease definition A rare tetrogenic embryofetopathy due to exposure to isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Additional information Further information on this disease Classification s 5 Gene s 0 Clinical signs and symptoms Other website s 3.
Patient-centred resources for this disease Expert centres Networks of expert centre 5 Diagnostic tests 0 Patient organisations 18 Orphan designation s and orphan drug s 0. Specialised Social Services Eurordis directory. Affected infants may present craniofacial, central nervous system, cardiac, and thymus abnormalities. There is also an increased risk of spontaneous abortions and premature delivery.
The authors present the case of an infant male who was the first child of young, healthy, unrelated parents, whose mother was exposed to isotretinoin in both pregestational and gestational periods.
He had a developmental delay, craniofacial abnormalities low-set and dysplastic ears with anteverted lobules, frontal upsweep, hypertelorism, flat nasal bridge and prominent filter and apparent articular hypermobility, more obvious in his knees. Brain magnetic resonance imaging showed absence of cerebellar vermis, midbrain dysplastic configuration with thickened superior cerebellar peduncles, decreased thickness of pons-midbrain transition, right cerebellar hemisphere dysplasia, mild decrease in corpus callosum thickness, and enlarged pericerebral subarachnoid space.
This information is distributed in the form of package inserts and patient information leaflets. A summary of these guidelines follows:. Isotretinoin and etretinate should not be used by women who are pregnant or who may become pregnant while taking the drug.
Pregnancy should be ruled out before treatment begins. This precaution may best be accomplished by obtaining a negative pregnancy test no more than 2 weeks prior to the beginning of therapy and starting therapy on the second or third day of the patient's next normal menstrual period. An effective form of contraception should be used for at least 1 month before therapy begins. Women who have received isotretinoin should continue using an effective form of contraception for 1 month after discontinuing treatment.
The period of time during which pregnancy must be avoided after treatment is discontinued has not been determined for women who have received etretinate.
Female patients should be counseled on the risk of major birth defects associated with first-trimester exposure to isotretinoin or etretinate. Should a pregnancy occur during treatment or after treatment, in the case of etretinate , the woman should consult her physician about the management of her pregnancy.
In addition, patients should be counseled not to share these prescription drugs with friends or family members. The approach suggested by these guidelines cannot be expected to prevent all fetal exposures.
It can be anticipated that infants will be born with defects caused by first-trimester exposures to the synthetic retinoids isotretinoin and etretinate as long as these drugs are available for use.
Multiple congenital malformations associated with maternal isotretinoin therapy. Pediatrics ; Teratogen update: vitamin A congeners.
Currently, public health programs exist to help reduce the chance that a woman will use retinoids if she is considering getting pregnant. When do symptoms of this disease begin? This section is currently in development. We recommend speaking with a doctor to learn more about this disease. Reference: Access aggregated data from Orphanet at Orphadata. Orphanet is an online database of rare diseases and orphan drugs.
Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Orphanet doesn't provide personalised answers. To get in touch with the Orphanet team, please contact. Information provided in your contribution including your email address will be stocked in. CSV files that will be sent as an email to Orphanet's teams.
These emails might be conserved in the teams' mailboxes, in our backoffice servers but will not be registered in our databases for more information see our section General Data Protection Regulation and data privacy GDPR and Confidentiality. A rare tetrogenic embryofetopathy due to exposure to isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorismcardio vascular conotruncal heart defects, aortic arch abnormalitiesand central nervous system hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit anomalies and thymic aplasia.
Other search option s Alphabetical list. Suggest an update. Summary and related texts. Related genes. Clinical signs. To get in touch with the Orphanet team, please contact Information provided in your contribution including your email address will be stocked in. Check this box if you wish to receive a copy of your message.
Disease definition A rare tetrogenic embryofetopathy due to exposure to isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Additional information Further information on this disease Classification s 5 Gene s 0 Clinical signs and symptoms Other website s 3.
Patient-centred resources for this disease Expert centres Networks of expert centre 5 Diagnostic tests 0 Patient organisations 18 Orphan designation s and orphan drug s 0. Specialised Social Services Eurordis directory. The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Isotretinoin is a retinoid which is derived from Vitamin A. It is indicated for severe cystic acne treatment, but it has been classified as teratogenic. The best-known retinoid is isotretinoin (Accutane), a drug used to treat severe cystic acne. Babies exposed to retinoids during pregnancy may. Retinoic acid embryopathy is an association of malformations caused by the teratogenic effect of retinoic acid, a drug used for the treatment of. Isotretinoin embryopathy consists of severe birth defects associated with first-trimester exposure to the synthetic retinoid isotretinoin (AccutaneTM*, Roche. A rare tetrogenic embryofetopathy due to exposure to isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic. She died on the 28th day of life. Type Accommodation and the title of the report in the subject line of e-mail.Retinoic acid embryopathy is an association of malformations caused by the teratogenic effect of retinoic acid, a drug used for the treatment of cystic acne. Affected infants may present craniofacial, central nervous system, cardiac, and thymus abnormalities.
There is also an increased risk of spontaneous abortions and premature delivery. The authors present the case of an infant male who was the first child of young, healthy, unrelated parents, whose mother was exposed to isotretinoin in both pregestational and gestational periods. He had a developmental delay, craniofacial abnormalities low-set and dysplastic ears with anteverted lobules, frontal upsweep, hypertelorism, flat nasal bridge and prominent filter and apparent articular hypermobility, more obvious in his knees.
Brain magnetic resonance imaging showed absence of cerebellar vermis, midbrain dysplastic configuration with thickened superior cerebellar peduncles, decreased thickness of pons-midbrain transition, right cerebellar hemisphere dysplasia, mild decrease in corpus callosum thickness, and enlarged pericerebral subarachnoid space.
The features described are compatible with isotretinoin embryopathy, according to the literature. This case aims to raise awareness about the use of teratogenic drugs in women of childbearing age, especially isotretinoin, and the importance of information regarding effective contraceptive methods, with compulsory pregnancy testing. You may also start an advanced similarity search for this article. Albina Silva. Almerinda Pereira. Keywords retinoic acid isotretinoin teratogenicity pregnancy embryopathy contraceptives.
How to Cite Patraquim, C. Isotretinoin embryopathy: report of one case. Abstract Retinoic acid is a derivative of vitamin A. Isotretinoin is also known as cis-retinoic acid. Similar Articles Dorret I. Forgot your password? Keep me logged in. No account? Register here.
Comments
Post a Comment