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Rev. argent. dermatol ; Rev. argent. dermatol;99(3): 51-60, set. 2018.
Artigo em Espanhol | LILACS | ID: biblio-977221

RESUMO

RESUMEN El síndrome de Schimmelpenning es un desorden neurocutáneo sistémico raro caracterizado por nevo sebáceo extendido, de ubicación primordialmente craneofacial, y compromiso de diferentes órganos neuroectodérmicos. Los principales desórdenes del sistema nervioso central (SNC) comprenden retraso mental, convulsiones y hemimegalencefalia. Otras anomalías asociadas incluyen oculares, osteoesqueléticas, cardiovasculares y genitourinarias. Reportamos el caso de una paciente femenina de 4 meses de edad con lesiones cutáneas y sistémicas compatibles con Syndrome de Schimmelpenning - Feuerstein - Mims y RMN que muestra compromiso del SNC.


SUMMARY Schimmelpenning syndrome is a rare congenital neurocutaneous disorder characterized by extensive nevus sebaceous, mainly craniofacial, and abnormalities in different neuroectodermal organ systems. The most common central nervous system disorders are intellectual disability, seizures and hemimegalencephaly. Other associated anomalies include ocular, skeletal, cardiovascular and genitourinary. We report a four month old female patient with cutaneous and systemic lesions compatible with Schimmelpenning - Feuerstein - Mims syndrome and MRI showing central nervous system compromise. system compromise include seizures, mental retardation and anatomic alterations that include cranial asymmetry, hemimegalencephaly with asymmetric and dilated ventricles, and calcium deposit. We report the case of a four month old female patient with skin and systemic lesions compatible with Schimmelpenning syndrome and MRI showing its central nervous system compromise.

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