Schimmelpenning Syndrome

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report Schimmelpenning Syndrome is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Introduction
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 nevus sebaceus(also referred to as sebaceous nevi) because they consist of an increased number ofmalformed sebaceous glands (small oil-producing glands in the skin) along with an overgrowth (hyperplasia) of the epidermis. Nevus sebaceous is the most common type of organoid epidermal nevus (which broadly encompasses 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).
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Summary
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, Jadassohn nevus phacomatosis and Jadassohn sebaceous nevus syndrome.

Supporting Organizations

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
Website: http://rarediseases.info.nih.gov/GARD/

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
Email: NIAMSinfo@mail.nih.gov
Website: http://www.niams.nih.gov/

Nevus Network

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

Nevus Outreach, Inc.

600 SE Delaware Ave., Suite 200
Bartlesville, OK 74003
USA
Tel: (918)331-0595
Fax: (281)417-4020
Tel: (877)426-3887
Email: mbeckwith@nevus.org
Website: http://www.nevus.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, 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.

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Last Updated:  5/26/2015
Copyright  2015 National Organization for Rare Disorders, Inc.