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    Epidermal Nevus Syndromes

    Important
    It is possible that the main title of the report Epidermal Nevus Syndromes 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.

    Synonyms

    • ENSs

    Disorder Subdivisions

    • angora hair nevus syndrome
    • Becker nevus syndrome
    • CHILD syndrome
    • nevus comedonicus syndrome
    • phacomatosis pigmentokeratotica
    • Proteus syndrome
    • Schimmelpenning syndrome
    • type 2 segmental Cowden disease
    • Garcia-Hafner-Happle syndrome

    General Discussion

    Epidermal nevus syndromes (ENSs) are a group of rare complex disorders characterized by the presence of skin lesions known as epidermal nevi associated with additional extra-cutaneous abnormalities, most often affecting the brain, eye and skeletal systems. Epidermal nevi are overgrowths of structures and tissue of the epidermis, the outermost layer of the skin. The different types of epidermal nevi can vary in size, number, location, distribution and appearance. Neurological abnormalities that can be associated with ENSs can include seizures, cognitive impairment, developmental delays and paralysis of one side of the body (hemiparesis). Skeletal abnormalities can include abnormal curvature of the spine, malformation of the hip and abnormalities of the arms and legs (e.g., underdevelopment or absence or overgrowth of limbs). Ocular abnormalities may include cataracts, clouding (opacity) of the cornea or partial absence of tissue of the iris or retina (colobomas). Endocrine abnormalities such as vitamin D-resistant rickets have been associated with Schimmelpenning syndrome. The specific symptoms and severity of ENSs can vary greatly from one person to another. Most ENSs occur randomly for no apparent reason (sporadically), most likely due to a gene mutation that occurs after fertilization (postzygotic mutation) and is present in only some of the cells of the body (mosaic pattern).

    The term "epidermal nevus syndrome" has generated significant controversy and confusion in the medical literature. Originally, the term was used to denote a disorder that was actually several different disorders erroneously grouped together. In the recent past, the term was used to denote a specific disorder now known as Schimmelpenning syndrome. However, the term epidermal nevus syndrome could be correctly applied to several different disorders. Therefore, the umbrella term "epidermal nevus syndromes" now represents a group of distinct disorders that have in common the presence of one of the various types of epidermal nevi. However, there is so far no general agreement how to classify the types of this diverse group of disorders, adding to the confusion within the medical literature. These disorders are quite different from one another and are not "variants" of each other as is sometimes mistakenly stated in the medical literature. In the future, as the genetic molecular basis of these disorders is better understood, the classification may change or expand. This report follows the classification from a review by Happle (J Am Acad Dermatol 2010).

    Two other terms that have been used to describe ENSs are "organoid nevus syndrome" and "keratinocytic nevus syndrome". However, it is inappropriate to use these terms to denote a single disorder or interchangeably with epidermal nevus syndromes. Organoid nevus syndrome is a general term that could be applied to at least five different types of ENS. Keratinocytic nevus syndrome is a general term that could be applied to four different types of ENS.

    NORD has individual reports on specific ENSs including Schimmelpenning syndrome, Proteus syndrome, and CHILD syndrome.

    Resources

    Nevus Network
    PO Box 305
    West Salem, NC 44287
    USA
    Tel: (419)853-4525
    Fax: (405)377-3403
    Email: info@nevusnetwork.org
    Internet: http://www.nevusnetwork.org/

    Foundation for Ichthyosis & Related Skin Types
    2616 N Broad Street
    Colmar, PA 18915
    Tel: (215)997-9400
    Fax: (215)997-9403
    Tel: (800)545-3286
    Email: info@firstskinfoundation.org
    Internet: http://www.firstskinfoundation.org

    NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
    Information Clearinghouse
    One AMS Circle
    Bethesda, MD 20892-3675
    USA
    Tel: (301)495-4484
    Fax: (301)718-6366
    Tel: (877)226-4267
    TDD: (301)565-2966
    Email: NIAMSinfo@mail.nih.gov
    Internet: http://www.niams.nih.gov/

    Proteus Syndrome Foundation
    4915 Dry Stone Drive
    Colorado Springs, CO 80923
    USA
    Tel: (901)756-9375
    Email: kimhoag01@comcast.net
    Internet: http://www.proteus-syndrome.org

    Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg, MD 20898-8126
    Tel: (301)251-4925
    Fax: (301)251-4911
    Tel: (888)205-2311
    TDD: (888)205-3223
    Internet: http://rarediseases.info.nih.gov/GARD/

    CLOVES Syndrome Community
    PO Box 406
    West Kennebunk, ME 04094
    Tel: (207) 281-2130
    Email: clovessyndrome@gmail.com
    Internet: http://www.clovessyndrome.org

    For a Complete Report:

    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 orphan@rarediseases.org

    Last Updated: 6/20/2011
    Copyright 1991, 1992, 1993, 2000, 2011 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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