Monilethrix

Monilethrix

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Monilethrix is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Monilethrix is a rare inherited disorder characterized by sparse, dry, and/or brittle hair that often breaks before reaching more than a few inches in length. The hair may lack luster, and there may be patchy areas of hair loss (alopecia). Another common symptom may be the appearance of elevated spots (papules) surrounding the hair follicles that may be covered with gray or brown crusts or scales (perifollicular hyperkeratosis). When viewed under a microscope, the hair shaft resembles a string of evenly-spaced beads. In most cases, monilethrix is inherited as an autosomal dominant trait.

Symptoms

In most cases of monilethrix, the hair is normal at birth; it may then be slowly replaced by abnormal hair during the first few months to two years of life. In some rare cases, the hair may be abnormal at birth (congenital). The hair may be sparse, dry, lusterless, and/or brittle. In addition, the hair is unusually short and breaks off before growing longer than a few inches.



Scalp hair is most frequently affected by monilethrix. The entire scalp or small areas of the scalp may be involved. In some cases, the eyelashes, eyebrows, pubic hair, and/or other body hair may also be affected. In addition, the patchy loss of hair (alopecia) is a common characteristic of this disorder. Progressive hair loss may lead to scattered bald patches or baldness.



In most cases of monilethrix, a skin condition known as perifollicular hyperkeratosis may develop. The condition is characterized by firm dark lesions (papules) covered with gray-brown scales and crusts that appear on the skin, especially the scalp.



The severity and progression of symptoms may vary greatly from case to case. In some cases, individuals with monilethrix may experience remission of the disorder for no apparent reason (spontaneously), most often during puberty or pregnancy. In other cases, the condition may remain the same throughout life or the symptoms may become progressively worse.

Causes

In most cases, monilethrix is inherited as an autosomal genetic trait. Genetic diseases are determined by two genes, one received from the father and one from the mother.



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% for each pregnancy regardless of the sex of the resulting child.



Some cases of monilethrix result from defects (mutations) in the hair cortex keratin gene(s) (HB1; KRTHB1 and HB6; KRTHB6) located on the long arm (q) of chromosome 12 (12q13). Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Pairs of human chromosomes are numbered from 1 through 22, and an additional 23rd pair of sex chromosomes which include one X and one Y chromosome in males and two X chromosomes in females. 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 12p13" 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.



The physical findings associated with monilethrix may result from abnormalities of the hard keratin of hair and nails.

Affected Populations

Monilethrix affects males and females in equal numbers. The exact number of people affected by this disorder is not known. Monilethrix may be apparent at birth or by the age of two years. In some cases, the symptoms may improve at puberty or during pregnancy; in other cases, the symptoms may remain the same throughout life.

Standard Therapies

The diagnosis of monilethrix may be confirmed by a thorough clinical evaluation and microscopic examination of the hair. When viewed under a microscope, the hair resembles a string of evenly-spaced beads.



No specific treatment exists for monilethrix. Spontaneous resolution following puberty has occurred in some cases. In affected females, the condition improves during pregnancy. Genetic counseling will be of benefit for affected individuals and their families. Other treatment is symptomatic and supportive.

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) 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

Behrman RE, ed. Nelson Textbook of Pediatrics, 15th ed. Philadelphia, PA: W.B. Saunders Company; 1996:1667.



Champion RH, et al., eds. Textbook of Dermatology. 5th ed. Cambridge, MA: Blackwell Scientific Publications; 1992:2607-9, 2586-92.



Buyce ML, ed. Birth Defects Encyclopedia. Dover, MA: Blackwell Scientific Publications; For: The Center for Birth Defects Information Services Inc; 1990:826.



JOURNAL ARTICLES

Khandpur S, et al. A study of phenotypic correlation with genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin. Ann Genet. 2004;47:77-84.



Horev L, et al. De novo mutations in monilethrix. Exp Dermatol. 2003;12:882-5.



Korge BP, et al. Indentification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype. J Invest Dermatol. 1999;113:607-12.



Zlotogorski A, Horev L, Glaser B. Monilethrix: a keratin hHb6 mutation is co-dominant with variable expression. Exp Dermatol. 1998;7:268-72.



Birch-Machin MA, et al. Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity. Br J Dermatol. 1997;137:339-43.



De Berker DA, et al. Monilethrix: a clinicopathological illustration of a cortical defect. Br J Dermatol. 1993;128:327-31.



De Berker DA, et al. Monilethrix treated with oral retinoids. Clin Exp Dermatol. 1991;16:226-8.



Ito M, et al. Pathogenesis of monilethrix: computer stereography and electron microscopy. J Invest Dermatol. 1990;95:186-94.



Schaap T, et al. The genetic analysis of monilethrix in a large inbred kindred. Am J Med Genet. 1982;11:469-74.



Gummer CL, et al. Monilethrix: an electron microscopic and electron histochemical study. Br J Dermatol. 1981;105:529-41.



FROM THE INTERNET

McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No:158000; Last Update:9/1/1998. Available at: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=158000 Accessed on: August 10, 2004.



Alexiewicz-Slowinska G. Monilethrix. Emedicine. Available at: http://www.emedicine.com/derm/topic763.htm Accessed on: August 10, 2004.

Resources

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/



Locks of Love

234 Southern Blvd.

West Palm Beach, FL 33405-3099

Tel: (561)833-7332

Fax: (561)833-7962

Tel: (888)896-1588

TDD: (561)833-7332

Email: info@locksoflove.org

Internet: http://www.locksoflove.org



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.