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Schimmelpenning Syndrome: A Kind of Craniofacial Epidermal Nevus Associated with Cerebral and Ocular MR Imaging Abnormalities

Schimmelpenning Syndrome: A Kind of Craniofacial Epidermal Nevus Associated with Cerebral and... This letter focuses on Schimmelpenning syndrome (SS), a neurocutaneous disorder related to epidermal nevus syndromes and characterized by craniofacial nevus, neurologic anomalies, and ocular pathology. We discuss clinical and MR imaging features of a 10-year-old boy, pointing out the etiopathologic substratum of this condition and the vascular origin of brain abnormalities; in our case, there is an unusual association of hemimacrocephaly and ipsilateral cerebral hemiatrophy. Epidermal nevus syndrome is a rare phacomatosis characterized by epidermal nevi in association with neurologic disorders and ocular or skeletal anomalies; other organ systems may be involved with hamartomas. The term "epidermal nevus syndrome" does not indicate 1 disease but rather a heterogeneous group of neurocutaneous disorders with a distinct genetic profile and a similar cutaneous phenotype. 1 These conditions may differ from one another either by type and site of nevi or by distinctive clinical correlations. SS represents the best definition for a craniofacial sebaceus nevus associated with difficult seizures, mental retardation, and ocular lesions, such as coloboma or epibulbar lipodermoid; skull deformity is usually present. Cerebral manifestations include developmental anomalies, vascular lesions, tumors, and tumorlike conditions, which are all generally ipsilateral to the nevi. 2 , 3 The classic form of http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Neuroradiology American Journal of Neuroradiology

Schimmelpenning Syndrome: A Kind of Craniofacial Epidermal Nevus Associated with Cerebral and Ocular MR Imaging Abnormalities

Amato, C.; Elia, M.; Schepis, C.
American Journal of Neuroradiology , Volume 31 (5): E47 – May 1, 2010
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References (7)

Publisher
American Journal of Neuroradiology
Copyright
Copyright © 2010 by the American Society of Neuroradiology.
ISSN
0195-6108
eISSN
1936-959X
DOI
10.3174/ajnr.A2062
Publisher site
See Article on Publisher Site

Abstract

This letter focuses on Schimmelpenning syndrome (SS), a neurocutaneous disorder related to epidermal nevus syndromes and characterized by craniofacial nevus, neurologic anomalies, and ocular pathology. We discuss clinical and MR imaging features of a 10-year-old boy, pointing out the etiopathologic substratum of this condition and the vascular origin of brain abnormalities; in our case, there is an unusual association of hemimacrocephaly and ipsilateral cerebral hemiatrophy. Epidermal nevus syndrome is a rare phacomatosis characterized by epidermal nevi in association with neurologic disorders and ocular or skeletal anomalies; other organ systems may be involved with hamartomas. The term "epidermal nevus syndrome" does not indicate 1 disease but rather a heterogeneous group of neurocutaneous disorders with a distinct genetic profile and a similar cutaneous phenotype. 1 These conditions may differ from one another either by type and site of nevi or by distinctive clinical correlations. SS represents the best definition for a craniofacial sebaceus nevus associated with difficult seizures, mental retardation, and ocular lesions, such as coloboma or epibulbar lipodermoid; skull deformity is usually present. Cerebral manifestations include developmental anomalies, vascular lesions, tumors, and tumorlike conditions, which are all generally ipsilateral to the nevi. 2 , 3 The classic form of

Journal

American Journal of Neuroradiology – American Journal of Neuroradiology

Published: May 1, 2010

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