Ichthyosis

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.

Symptoms

Ichthyosis is characterized by scaly and dry skin usually over large areas of the body. The skin may also itch (pruritis) and be red (erythroderma). Babies born with some forms of the disorder may be born covered in a parchment-like membrane called a collodion membrane.



The appearance of the scales may vary; in some forms the scales may be fine and white, while in others the scales may be dark and brown and separated by deep cracks. The more severe forms of ichthyosis can cause other problems. When the skin loses moisture, it becomes dry, tight and inelastic. This rigidity can make moving uncomfortable and can cause the skin to crack and fissure. Thickening of the skin on the soles of the feet can make walking difficult and cracking around the fingers can make even simple tasks painful. In some types of ichthyosis the skin is very fragile and will rub off with the slightest abrasion. Cracks and abrasions then leave the skin open to infection.



Severe scaling on the scalp may interfere with normal hair growth. Thick scales can block pores, making sweating difficult and increasing the risk of overheating. Although the outer skin is thicker in ichthyosis, it is less effective in preventing water and calorie loss by diffusion across the surface of the skin. The rapid turnover of the outer layers of the skin, in some forms of ichthyosis, requires additional energy. Because of greater energy needs, some children with severe ichthyosis may require additional calories to grow normally.



Some people with ichthyosis have trouble closing their eyes completely because the surrounding skin is so tight. This condition, called ectropion, causes the eyelids to flip outward, exposing the red inner lid and causing irritation. If it is left untreated, damage to the cornea may develop leading to impaired vision.

Causes

Most known forms of ichthyosis are hereditary disorders. Some forms are caused by dominant genes; some are caused by recessive genes.



In some forms of ichthyosis, the skin cells are produced at the normal rate, but they do not separate normally at the surface of the outermost layer of skin (stratum corneum) and are not shed as quickly as they should be. In other forms, there is an overproduction of skin cells in the epidermis. The cells reach the stratum corneum in as few as four days, compared to the normal fourteen. New cells are made faster than the old cells are shed and build up in the stratum corneum and underlying layers. The result in both instances is a build up of scale.

Affected Populations

All the ichthyoses are rare disorders. Incidences vary according to disease type. The ichthyoses occur in all populations. Most forms are not bounded by gender, race or ethnicity.

Standard Therapies

The dry skin of ichthyosis is treating by applying skin softening emollients. This can be particularly effective after bathing while the skin is still moist. Lotions containing alpha-hydroxy acids, urea, or propylene glycol can also be effective. Skin barrier repair formulas containing ceramides or cholesterol may also improve scaling.



Severe cases of ichthyosis may be treated systemically with oral synthetic retinoids (synthetic derivatives of Vitamin A). Retinoids are used only in severe cases due to their known bone toxicity and other complications.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.



For information about clinical trials being conducted at the National Institutes of Health (NIH) Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

References

Elias, PM, Williams, ML. Enlightened Therapy of the Disorders of Cornification. Clinics in Dermatology. 2003; 21: 269-273.



DiGiovanna, JJ, Robinson-Bostom, L. Ichthyosis: etiology, diagnosis, and management. Am J Clin Dermatol. 2003; 4: 81-95.



Williams, ML, et al. Genetically Transmitted, Generalized Disorders of Cornification. The Ichthyoses. Dermatol Clin. January 1987; 5(1): 155-78.

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

9300 Wilshire Blvd.

Suite 410

Beverly Hills, CA 90212

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, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, 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.

This information does not replace the advice of a doctor. Healthwise, Incorporated disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use . How this information was developed to help you make better health decisions.

Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.