You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.
NORD is very grateful to Jeffrey Sugarman MD, PhD, Pediatric and Adult Dermatology, Medical Director Redwood Family Dermatology, Associate Clinical Professor in Dermatology and Family Medicine, University of California, San Francisco and Prof. Dr. Christian Hafner, Department of Dermatology, University of Regensburg, Regensburg, Germany, for assistance in the preparation of this report.
Synonyms of Schimmelpenning Syndrome
- Jadassohn nevus phacomatosis
- Jadassohn sebaceous nevus syndrome
- linear sebaceous nevus sequence
- Schimmelpenning-Feuerstein-Mims syndrome
- No subdivisions found.
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.
Schimmelpenning Syndrome Resources
The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.
The National Organization for Rare Disorders (NORD) web site, its databases, and the contents thereof are copyrighted by NORD. No part of the NORD web site, databases, or the contents may be copied in any way, including but not limited to the following: electronically downloading, storing in a retrieval system, or redistributing for any commercial purposes without the express written permission of NORD. Permission is hereby granted to print one hard copy of the information on an individual disease for your personal use, provided that such content is in no way modified, and the credit for the source (NORD) and NORD’s copyright notice are included on the printed copy. Any other electronic reproduction or other printed versions is strictly prohibited.
NORD's Rare Disease Information Database is copyrighted and may not be published without the written consent of NORD.