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Revista argentina de dermatología
On-line version ISSN 1851-300X
Abstract
PÉREZ-ELIZONDO, AD; ARELLANO-FLORES, J and LEDEZMA-ROJAS, R. SCHIMMELPENNIG SYNDROME. REPORT OF A CASE. Rev. argent. dermatol. [online]. 2018, vol.99, n.3, pp.51-60. Epub Sep 30, 2018. ISSN 1851-300X.
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.
Keywords : epidermal nevus syndrome; Schimmelpenning-Feuerstein-Mims syndrome; brain lesions.