Ichthyosis, Keratosis Follicularis Spinulosa Decalvans

Ichthyosis, Keratosis Follicularis Spinulosa Decalvans

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Ichthyosis, Keratosis Follicularis Spinulosa Decalvans 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 24
  • DOC 24
  • Siemens Syndrome

Disorder Subdivisions

  • None

General Discussion

Keratosis follicularis spinulosa decalvans (KFSD) is a rare, inherited, skin disorder that affects men predominately and is characterized by hardening of the skin (keratosis) in several parts of the body. Most frequently, the face, neck, and forearms are involved. The thickening of the skin is accompanied by the loss of eyebrows, eyelashes and beard. Baldness (alopecia) usually occurs.

Symptoms

Keratosis follicularis spinulosa decalvans is one form of the ichthyoses, a group of inherited disorders of the skin in which the skin tends to be thick and rough, and to have a scaly appearance. Hardening of the skin around the hair follicles leads to scarring and baldness. Allergic reactions (atopy), reduced tolerance of bright light (photophobia), and inflammation of the eye's cornea (keratitis) may also occur. Occasionally, the teeth become stained.



The word decalvans comes from the Greek for snake and alludes to the whorls and winding streaks characteristic of the pattern of baldness in this disorder. The name is often accompanied by the phrase "cum ophiasi" which simply means baldness.

Causes

Keratosis follicularis spinulosa decalvans is inherited as an X-linked 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 subdivided into many bands that are numbered. For example, "chromosome Xp22.2-p22.13" refers to a region between bands 22.2 and 22.13 on the short arm of the X chromo-some. 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.



X-linked dominant disorders are caused by an abnormal gene on the X chromosome, but in these rare conditions, females with an abnormal gene are affected with the disease. Males with an abnormal gene are more severely affected than females, and many of these males do not survive.

Affected Populations

Keratosis Follicularis Spinulosa Decalvans is a rare disorder affecting males more severely than females.

Standard Therapies

Diagnosis

In most instances the appearance of the skin determines the diagnosis but a family history and physical examination are often required to rule out other possible causes of scaly, dry skin.



Some physicians may examine skin tissue under a light microscope or even under an electron microscope.



Treatment

The dry scaly skin of KFSD 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.



Drugs derived from Vitamin A (retinoids) such as tretinoin, motretinide, and etretinate are often effective against symptoms of Ichthyosis, but can cause toxic effects on the bones in some cases. A synthetic derivative of Vitamin A, isotretinoin, when taken by pregnant women, can cause severe birth defects to the fetus. These Vitamin A compounds have not yet been approved by the Food and Drug Administration (FDA) for treatment of Ichthyosis, and should be avoided by women of child-bearing age.

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

TEXTBOOKS

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



Berkow R., ed. The Merck Manual-Home Edition.2nd ed. Whitehouse Station, NJ: Merck Research Laboratories; 2003:1192.



Beers MH, Berkow R., eds. The Merck Manual, 17th ed. Whitehouse Station, NJ: Merck Research Laboratories; 1999:831-32.



Champion RH, Burton JL, Ebling FJG. eds. Textbook of Dermatology. 5th ed. Blackwell Scientific Publications. London, UK; 1992:1329-65.



JOURNAL ARTICLES

Alfadley A, Al Hawsawi K, Hainau B, et al. Two brothers with keratosis follicularis spinulosa decalvans. J Am Acad Dermatol. 2002;47(5 Suppl):S275-78.



Porteous ME, Strain L, Logie LJ, et al. Keratosis follicularis spinulosa decalvans: confirmation of linkage to Xp22.13-p22.2. J Med Genet. 1998;35:336-37.



Romine KA, Rothschild JG, Hansen RC. Cicatricial alopecia and keratosis pilaris. Keratosis follicularis spinulosa decalvans. Arch Dermatol. 1997;133:381, 384.



Herd RM, Benton EC. Keratosis follicularis spinulosa decalvans: report of a new pedigree. Br J Dermatol. 1996;134:138-42.



FROM THE INTERNET

Keratosis follicularis spinulosa decalvans. Orphanet. nd.

www.orpha.net/concor/cgi-bin/Pages/Service/Signe/Service_PatSgn_Data.php?PatId=2192



Ichthyosis. British Association of Dermatologists. nd. 5pp.

www.bad.org.uk/patients/skin_disease_info/ichthyosis/



Ngan V. Ichthyosis. New Zealand Dermatological Society. Last updated 8 September 2003. 4pp.

www.dermnetnz.org/dna.dry.skin/ichth.html



McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University. Keratosis Follicularis Spinulosa Decalvans cum Ophiasi; KFSD. Entry Number; 308800: Last Edit Date; 5/20/2003.

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/



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.