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Ichthyosis

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Ichthyosis 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

  • Disorders of Cornification

Disorder Subdivisions

  • Chanarin-Dorfman syndrome (neutral lipid storage disease)
  • CHILD syndrome (unilateral hemidysplasia)
  • Conradi-Hunermann syndrome (X-linked dominant chondrodysplasia punctata)
  • congenital ichthyosiform erythroderma (CIE)
  • Darier disease
  • epidermal nevi (ichthyosis hystrix, linear epidermal nevus)
  • epidermolytic hyperkeratosis (EHK)
  • erythrokeratodermia variabilis (EKV)
  • Giroux-Barbeau syndrome
  • Hailey-Hailey disease (benign familial pemphigus)
  • harlequin ichthyosis (harlequin fetus)
  • ichthyosis hystrix Curth-Macklin type
  • ichthyosis vulgaris (ichthyosis simplex)
  • keratosis follicularis spinulosa decalvans
  • KID syndrome (keratitis, ichthyosis, deafness)
  • lamellar ichthyosis
  • multiple sulfatase deficiency
  • Netherton syndrome (ichthyosis linearis circumflexa)
  • pachyonychia congenita
  • palmoplantar keratodermas (PPK)
  • peeling skin syndrome
  • pityriasis rubra pilaris (PRP)
  • Refsum's disease (phytanic acid storage disease)
  • Rud's syndrome
  • Sjogren-Larsson syndrome
  • Tay's syndrome (trichothiodystrophy, IBIDS syndrome)
  • X-linked ichthyosis

General Discussion

Ichthyosis is a general term for a family of rare genetic skin diseases characterized by dry, thickened, scaling skin. The various forms are distinguished from one another by: 1) extent of the scaling and how widely and where the scaling is scattered over the body; 2) the presence or absence and intensity of reddening of the skin (erythroderma); 3) the mode of inheritance; and 4) the character of associated abnormalities.

Resources

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/



National Registry for Ichthyosis and Related Disorders

University of Washington

Dermatology Dept. Box 356524

1959 N.E. Pacific Street

Seattle, WA 98195-6524

Tel: (800)595-1265

Email: info@skinregistry.org

Internet: http://www.skinregistry.org/



Cicatricial Alopecia Research Foundation

330 W State Street

Geneva, IL 60134

USA

Tel: (310)801-3450

Email: info@carfintl.org

Internet: http://www.carfintl.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/



Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766

Email: getinfo@madisonsfoundation.org

Internet: http://www.madisonsfoundation.org



European Network for Ichthyosis (ENI)

In den Dellen 21

D-51515 Kürten

Germany

Tel: +49 2207849869

Email: e-n-i@gmx.net

Internet: http://www.ichthyosis.eu



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:  4/19/2008

Copyright  1988, 1989, 1992, 1993, 1996, 1997, 2005 National Organization for Rare Disorders, Inc.

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