Ichthyosis, Lamellar

Ichthyosis, Lamellar

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Ichthyosis, Lamellar 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 congenita
  • collodion baby
  • lamellar ichthyosis, type 1 and type 2
  • non-bullous congenital ichthyosiform erythroderma (non-bullous CIE)

Disorder Subdivisions

  • None

General Discussion

Lamellar ichthyosis is a rare genetic skin disorder. In lamellar ichthyosis, the skin cells are produced at a 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. The result of this retention is the formation of scale.

Symptoms

Lamellar ichthyosis is present at birth. Many babies born with lamellar ichthyosis are born as "collodion babies", so called because they are covered with a clear membrane (the collodion). Sometimes described as having a shellacked appearance, these newborns have skin that can be red or dark, tight and split. Often the eyelids and lips are forced open by the tightness of the skin, and there may be contractures around the fingers. Problems with temperature regulation, water loss, secondary infections, and systemic infection can occur in the newborn with lamellar ichthyosis.



The collodion membrane is shed a few days to a few weeks after birth, leaving the newborn covered with broad, dark, plate-like scales separated by fissures that may be superficial or deep. People with lamellar ichthyosis often have trouble closing their eyes completely because of the tightness of the skin around the eyes and eyelids. In some cases, the skin around the eyes pulls so tightly it causes they eyelids to turn outward exposing the inner red lid and causing continuous irritation. This condition is called ectropion. Some physicians recommend plastic surgery to correct it because if left untreated, damage to the cornea can develop leading to impaired vision. People with lamellar ichthyosis may also have thickened nails and hair loss due to the thickness of the scales on their scalp. They may also have reddened skin (erythroderma), thickened skin on the palms of the hands and soles of the feet, and decreased sweating with heat intolerance.

Causes

Lamellar ichthyosis may be caused by mutations affecting several different genes. Three of these genes have been identified; they are the gene encoding the epidermal enzyme Transglutaminase 1 and two genes encoding two distinct but related enzymes, 12(R)-lipoxygenase and lipoxygenase-3. Transglutaminase 1 is an important enzyme responsible for cross-linking epidermal proteins during the formation and maturation of the stratum corneum. There is also evidence for more genes that are yet to be identified.



The mutations that cause lamellar ichthyosis are recessively inherited. In recessive disorders the condition appears when the person inherits a defective gene for the same trait from each parent. If the individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease but will not show the condition. The risk of transmitting the disease to the children of a couple, both of whom are carriers for the recessive disorder, is approximately 25 percent per pregnancy.

Affected Populations

Lamellar ichthyosis is a very rare disorder occurring in less than one in 200,000 people. Lamellar ichthyosis is not limited by gender, race or ethnicity; it occurs in all populations.

Standard Therapies

Lamellar ichthyosis is treated topically with skin barrier repair formulas containing ceramides or cholesterol, moisturizers with petrolatum or lanolin, and mild keratolytics (products containing alpha-hydroxy acids.) Severe lamellar ichthyosis can be treated systemically with oral synthetic retinoids. Retinoids are only used in severe cases of lamellar ichthyosis 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



For information about current research related to ichthyosis, contact the Foundation for Ichthyosis & Related Skin Types listed in the Resources section of this report.

References

JOURNAL ARTICLES

Small K, Ginsburg H, Greco MA, Sarita-Reyes C, Kupchik G, Blei F. More than skin deep: a case of congenital lamellar ichthyosis, lymphatic malformation, and other abnormalities. Lymphat Res Biol. 2008;6(1):39-44



Sathish Kumar T, Scott XJ, Simon A, Raghupathy P Vitamin D deficiency rickets with Lamellar ichthyosis. J Postgrad Med. 2007 Jul-Sep;53(3):215-7.



Chaurasia S, Das S, Ramamurthy B. Microbial keratitis in a case of lamellar ichthyosis.

Int Ophthalmol. 2007 Sep 9.



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



Williams ML. Lamellar ichthyosis and Congenital Ichthyosiform Erythroderma (CIE).

Ichthyosis Focus. Fall 2003; 22(3): 1-4.



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



Buxman M, et al. Therapeutic activity of lactate 12% lotion in the treatment of ichthyosis. Active versus vehicle and active versus a petroleum cream. J Am Acad Dermatol. December 1986; 15(6): 1253-1258.



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/



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/



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.

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