Resumo

MENDOZA-URBANO, Diana Marcela; RAMIREZ-CHEYNE, Julián  e  SALDARRIAGA-GIL, Wilmar. Piebaldism-Moebius and prenatal exposure to misoprostol: a case report. Iatreia [online]. 2016, vol.29, n.1, pp.81-87. ISSN 0121-0793.  https://doi.org/10.17533/udea.iatreia.v29n1a08.

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.

Palavras-chave : Birth Defects; Hypopigmentation; Mobius Syndrome; Misoprostol; Piebaldism; Pregnancy.

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