Ichthyosis Hystrix, Curth Macklin Type

Ichthyosis Hystrix, Curth Macklin Type

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Ichthyosis Hystrix, Curth Macklin Type 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

  • Disorder of Cornification 8, Curth-Macklin Type
  • DOC 8, Curth-Macklin Type

Disorder Subdivisions

  • None

General Discussion

Ichthyosis hystrix, Curth-Macklin type is a rare inherited skin disorder. It is characterized by scaling skin (ichthyosis) ranging from mild to severe. The patches of scaly, thickened skin range from spotty to severe, and may appear on almost any part of the body.

Symptoms

Ichthyosis hystrix, Curth-Macklin type is characterized by patches of abnormally thick, hard skin that may appear almost anywhere on the body. Some clinicians describe the skin as "horn-like". With treatment, the patches may be considerably reduced. Under examination by electron microscopy, numerous cells (keratinocytes) with two nuclei are found. Frequently, the nuclei are surrounded by shells of a primitive, precursor protein of the skin.

Causes

The cause of ichthyosis hystrix, Curth Macklin type is a defect in the development of the precursor, structural protein (tonofilaments). The defect occurs as a result of a change (mutation) in the gene that produces (codes for) these proteins. The faulty gene has been mapped to chromosome 12q13.



Ichthyosis Hystrix, Curth-Macklin type is an inherited disorder, transmitted as an autosomal dominant trait.



Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated "p" and a long arm designated "q". Chromosomes are further sub-divided into many bands that are numbered. For example, "chromosome 12q13" refers to band 13 on the long arm of chromosome 12. The numbered bands specify the location of the thousands of genes that are present on each chromosome.



Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.



All individuals carry a few abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.



Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.

Affected Populations

Ichthyosis hystrix, Curth Macklin type is a rare disorder present at birth. It affects males and females in equal numbers.

Standard Therapies

Ichthyosis hystrix, Curth-Macklin type is treated by applying skin softening (emollient) ointments, preferably plain petroleum jelly. This can be especially effective after bathing while the skin is still moist. Salicylic acid gel is another particularly effective ointment. The skin should be covered at night with an airtight, waterproof dressing when this ointment is used. Lactate lotion can also be an effective treatment for this disorder.

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 web site.



For information about clinical trials being conducted at the 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

TEXTBOOKS

Sybert VA. Ichthyois. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:120-21.



Champion RH, Burton JL, Ebling FJG. Eds. Textbook of Dermatology. 5th ed. Blackwell Scientific Publications. London, UK; 1992:1340-41.



REVIEW ARTICLES

Ishida-Yamamoto A, Takahash H, Iizuka H. Lessons from disorders of epidermal differentiation-associated keratins. Histol Histopathol. 2002;17:331-38.



Anton-Lamprecht I. Ultrastructural identification of basic abnormalities as clues to genetic disorders of the epidermis. J Invest Dermatol. 1994;103(5 Suppl):6S-12S.



JOURNAL ARTICLE

Ishida-Yamamoto A. Richard G, Takahashi H, et al. In vivo studies of mutant keratin 1 in ichthyosis hystrix Curth-Macklin. J Invest Dermatol. 2003;120:498-500.



Bonifas JM, Bare JW, Chen MA, et al. Evidence against keratin gene mutations in a family with ichthyosis hystrix Curth-Macklin. J Invest Dermatol. 1993;101:890-91.



Niemi KM, Virtanen I, Kanerva L, et al. Altered keratin expression in ichthyosis hystrix Curth-Macklin. A light and electron microscopic study. Arch Dermatol Res. 1990;282:227-33.



Kanerva L, Karvonen J, Oikarinen A, et al. Ichthyosis hystrix (Curth-Macklin). Light and electron microscopic studies performed before and after etretinate treatment. Arch Dermatol. 1984;120:1218-23.



FROM THE INTERNET

McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University. Ichthyosis Hystrix Curth-Macklin Type; IHCM. Entry Number; 146950: Last Edit Date; 3/11/2003.



McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University. Ichthyosis Hystrix Gravior. Entry Number; 146600: Last Edit Date; 11/5/1994.

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 Allergy and Infectious Diseases

Office of Communications and Government Relations

6610 Rockledge Drive, MSC 6612

Bethesda, MD 20892-6612

Tel: (301)496-5717

Fax: (301)402-3573

Tel: (866)284-4107

TDD: (800)877-8339

Email: ocpostoffice@niaid.nih.gov

Internet: http://www.niaid.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/



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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