Piebaldism-Moebius and prenatal exposure to misoprostol: a case report

Piebaldism is a rare congenital disease with prevalence of 1/100.000, characterized by patchy depigmentation of the skin and the presence of a white forelock. Its course is static and otherwise patients are healthy. It is inherited in an autosomal dominant pattern and is caused by mutations in the g...

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Main Authors: Mendoza-Urbano, Diana Marcela, Ramírez-Cheyne, Julián, Saldarriaga-Gil, Wilmar
Format: Article
Language:Spanish
Published: Universidad de Antioquia 2016-01-01
Series:Iatreia
Subjects:
Online Access:http://aprendeenlinea.udea.edu.co/revistas/index.php/iatreia/article/view/22187/20764
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spelling doaj-ebc7204be6274df4a5ac90dd223c7e192020-11-25T04:01:40ZspaUniversidad de AntioquiaIatreia0121-07932011-79652016-01-01291818710.17533/udea.iatreia.v29n1a08Piebaldism-Moebius and prenatal exposure to misoprostol: a case reportMendoza-Urbano, Diana Marcela0Ramírez-Cheyne, Julián1Saldarriaga-Gil, Wilmar2Facultad de Salud, Universidad del Valle. Cali, ColombiaFacultad de Salud, Universidad del Valle. Cali, ColombiaFacultad de Salud, Universidad del Valle. Cali, ColombiaPiebaldism is a rare congenital disease with prevalence of 1/100.000, characterized by patchy depigmentation of the skin and the presence of a white forelock. Its course is static and otherwise patients are healthy. It is inherited in an autosomal dominant pattern and is caused by mutations in the gene c-kit, a proto-oncogene involved in the migration, proliferation, differentiation and survival of melanoblasts. On the other hand, Moebius syndrome is a congenital palsy of the VII cranial nerve, which may be associated with involvement of other cranial nerves, or even of other systems. In the United States its frequency has been calculated from 0.002% to 0.0002% of total births. We report the case of a newborn girl with piebaldism and Moebius syndrome associated with prenatal exposure to misoprostol. A search was made about these anomalies and the association between prenatal exposure to misoprostol and congenital anomalies. Piebaldism is a rare genetic disorder. On the other hand, the cause of Moebius syndrome is heterogeneous and not well defined, and it has been associated with prenatal exposure to misoprostol. Our patient had simultaneously two diseases: one purely genetic and the other potentially teratogenic.http://aprendeenlinea.udea.edu.co/revistas/index.php/iatreia/article/view/22187/20764Birth DefectsHypopigmentationMobius SyndromeMisoprostolPiebaldismPregnancy
collection DOAJ
language Spanish
format Article
sources DOAJ
author Mendoza-Urbano, Diana Marcela
Ramírez-Cheyne, Julián
Saldarriaga-Gil, Wilmar
spellingShingle Mendoza-Urbano, Diana Marcela
Ramírez-Cheyne, Julián
Saldarriaga-Gil, Wilmar
Piebaldism-Moebius and prenatal exposure to misoprostol: a case report
Iatreia
Birth Defects
Hypopigmentation
Mobius Syndrome
Misoprostol
Piebaldism
Pregnancy
author_facet Mendoza-Urbano, Diana Marcela
Ramírez-Cheyne, Julián
Saldarriaga-Gil, Wilmar
author_sort Mendoza-Urbano, Diana Marcela
title Piebaldism-Moebius and prenatal exposure to misoprostol: a case report
title_short Piebaldism-Moebius and prenatal exposure to misoprostol: a case report
title_full Piebaldism-Moebius and prenatal exposure to misoprostol: a case report
title_fullStr Piebaldism-Moebius and prenatal exposure to misoprostol: a case report
title_full_unstemmed Piebaldism-Moebius and prenatal exposure to misoprostol: a case report
title_sort piebaldism-moebius and prenatal exposure to misoprostol: a case report
publisher Universidad de Antioquia
series Iatreia
issn 0121-0793
2011-7965
publishDate 2016-01-01
description Piebaldism is a rare congenital disease with prevalence of 1/100.000, characterized by patchy depigmentation of the skin and the presence of a white forelock. Its course is static and otherwise patients are healthy. It is inherited in an autosomal dominant pattern and is caused by mutations in the gene c-kit, a proto-oncogene involved in the migration, proliferation, differentiation and survival of melanoblasts. On the other hand, Moebius syndrome is a congenital palsy of the VII cranial nerve, which may be associated with involvement of other cranial nerves, or even of other systems. In the United States its frequency has been calculated from 0.002% to 0.0002% of total births. We report the case of a newborn girl with piebaldism and Moebius syndrome associated with prenatal exposure to misoprostol. A search was made about these anomalies and the association between prenatal exposure to misoprostol and congenital anomalies. Piebaldism is a rare genetic disorder. On the other hand, the cause of Moebius syndrome is heterogeneous and not well defined, and it has been associated with prenatal exposure to misoprostol. Our patient had simultaneously two diseases: one purely genetic and the other potentially teratogenic.
topic Birth Defects
Hypopigmentation
Mobius Syndrome
Misoprostol
Piebaldism
Pregnancy
url http://aprendeenlinea.udea.edu.co/revistas/index.php/iatreia/article/view/22187/20764
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