Epidermal Nevus Syndrome

National Organization for Rare Disorders, Inc.

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

Synonyms

  • Ichthyosis Hystrix Gravior
  • Inflammatory Linear Nevus Sebaceous Syndrome
  • Lambert Type Ichthyosis
  • Linear Nevus Sebacous Syndrome
  • Linear Sebaceous Nevus Sequence
  • Linear Sebaceous Nevus Syndrome
  • Nevus Sebaceous of Jadassohn
  • Porcupine Man
  • Sebaceous Nevus Syndrome

Disorder Subdivisions

  • None

General Discussion

Epidermal Nevus Syndrome is a rare disorder characterized by distinctive birth marks (nevus) on the skin. Neurological and skeletal abnormalities may also occur. This disorder is usually apparent at birth (due to the skin lesions which are most often seen in the midface from the forehead down into the nasal area) and is often associated with seizures, mental deficiency, eye problems, bone malformations and atrophy of the brain. The exact cause of Epidermal Nevus Syndrome is not known although an autosomal dominant trait of inheritance seems to occur in approximately two thirds of the cases.

Resources

Nevus Network
The Congenital Nevus Support Group
P.O. Box 305
West Salem, OH 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
1364 Welsh Road G2
North Wales, PA 19454
Tel: (215)619-0670
Fax: (215)619-0780
Tel: (800)545-3286
Email: info@scalyskin.org
Internet: http://www.scalyskin.org

NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 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/Health_Info

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

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
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

For a Complete Report

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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