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It is possible that the main title of the report Schimmelpenning Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Schimmelpenning syndrome is a rare multisystem disorder characterized by sebaceous nevus associated with other abnormalities outside the skin which most commonly affect the brain, eyes and bones. The skin lesions associated with this disorder are called sebaceous nevus because they consist of an increased number of sebaceous glands (small oil-producing glands in the skin) along with an overgrowth (hyperplasia) of the epidermis and dilated apocrine glands. Sebaceous nevus is the most common type of organoid epidermal nevi (which broadly encompass abnormally formed adnexal skin elements such as hair follicles and glands within the skin). Epidermal nevi are usually present at birth (congenital), although they might not be identified until later during childhood or after puberty. Affected individuals may also have abnormalities affecting the brain such as seizures or intellectual impairment, the eyes such as clouding (opacity) of the cornea or partial absence of tissue of the iris or retina (coloboma), and the skeleton such as spinal malformations, craniofacial defects, and deformities of the arms and legs. Schimmelpenning syndrome occurs randomly for no apparent reason (sporadically) during the formation and development of the embryo (embryogenesis), most likely due to a mutation of a gene that occurs after fertilization (postzygotic mutation) and is present in only some of the cells of the body (mosaic pattern).
In the past, the term "epidermal nevus syndrome" was used to describe Schimmelpenning syndrome. Some authors still use these terms interchangeably. However, epidermal nevus syndrome no longer refers to a single entity, but rather represents a group of distinct, but related multisystem disorders. Additional terms used to describe Schimmelpenning syndrome include nevus sebaceus syndrome, Schimmelpenning-Feuerstein-Mims syndrome, linear sebaceous nevus sequence, nevus sebaceous of Jadassohn, sebaceous nevus syndrome, Jadassohn nevus phacomatosis and Jadassohn sebaceous nevus syndrome.
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Genetic and Rare Diseases (GARD) Information Center
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This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email firstname.lastname@example.org
Last Updated: 11/6/2012
Copyright 2012 National Organization for Rare Disorders, Inc.
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