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Diseases

Genetic and Rare Diseases Information Center (GARD)

Other Names for this Disease
  • Nodose hair
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Overview



What is monilethrix?

What causes monilethrix?

Is genetic testing for monilethrix clinically available?

What are the characteristics of monilethrix?


What parts of the body does monilethrix affect?


How do people inherit monilethrix?

Is there treatment available for monilethrix? Is there a cure for the condition?


What is monilethrix?

Monilethrix is a rare condition caused by a defect in the hair shaft resulting in hair which appears dry, dull, and brittle, and which breaks spontaneously or with mild trauma.  The age of onset, severity, and course may vary from person to person.[1]
Last updated: 1/30/2012

What causes monilethrix?

The cause of monilethrix remains unclear. To date, whether monilethrix is a disorder of the function or structure of the hair has not been determined. Some genetic studies suggest that monilethrix is likely caused by a mutation (change in a gene) in keratin (a type of protein found in the hair).[2] At least four genes have been found to cause this condition. Autosomal dominant monilethrix is caused by mutations in the hair cortex keratin genes KRT81, KRT83, or KRT86. The autosomal recessive form of monilethrix results from mutations in the desmoglein 4 (DSG4) gene.[3][4]

Last updated: 1/30/2012

Is genetic testing for monilethrix clinically available?

GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options. 
Last updated: 1/30/2012

What are the characteristics of monilethrix?

Monilethrix is characterized by a beaded appearance of the hair due to periodic thinning of the shaft. This condition results in hair fragility and patchy dystrophic alopecia (hair loss). The term monilethrix is derived from the Latin word monile, which means necklace, and the Greek word thrix, which means hair. This term describes the resemblance of the hair to a string of beads or a necklace.[2]
Last updated: 1/30/2012

What parts of the body does monilethrix affect?

Monilethrix occurs mainly on the scalp, predominantly on the occiput and nape and occasionally on other scalp areas. Scalp involvement can be widespread or localized. Occasionally, the eyelashes, eyebrows, pubic, axillary, and limb hair are involved.[2]
Last updated: 1/30/2012

How do people inherit monilethrix?

Monilethrix can be inherited in an autosomal dominant or autosomal recessive manner.[3][4] In autosomal dominant conditions, a single copy of the disease-associated mutation is enough to cause the disease. In many cases, an individual inherits the condition from a parent. In autosomal recessive conditions, two copies of the mutation, one from each parent, are needed to cause the disease. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Last updated: 1/30/2012

Is there treatment available for monilethrix? Is there a cure for the condition?

Unfortunately, the is no cure for monilethrix. Some patients have reported spontaneous improvement, particularly during puberty and pregnancy, but the condition rarely disappears completely.[1][2]

While there is no recognized definitive treatment for monilethrix, oral acitretin and topical 2% minoxidil have shown good clinical and cosmetic results with continued use.[2][5][6] The systemic administration of vitamins, retinoids, griseofulvin, oral contraceptives, steroids, radiation therapy, external desquamative ointments, and steroid preparations have not show impressive results.[2]

Avoiding trauma is perhaps the most effective method of managing monilethrix. This is because from birth, the hair of individuals with monilethrix tends to have an increased susceptibility to weathering and cosmetic damage (e.g., sunlight exposure, dyeing, bleaching, perming, curling). This susceptibility to damage can prevent hair from growing to its maximum length.[2]

Last updated: 3/12/2014

References
  1. Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Chapter 661 - Disorders of Hair. Kliegman: Nelson Textbook of Pediatrics, 18th ed. Philadelphia, PA: Saunders, An Imprint of Elsevier; 2007;
  2. Schwartz RA, Alexiewicx-Slowinska M. Monilethrix. Medscape Reference. September 12, 2013; http://emedicine.medscape.com/article/1118500-overview#. Accessed 3/12/2014.
  3. Monilethrix. Online Mendelian Inheritance in Man (OMIM). May 6, 2010; http://omim.org/entry/158000. Accessed 1/30/2012.
  4. Farooq M, Ito M, Naito M, Shimomura Y. A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene. Br J Dermatol. 2011; http://www.ncbi.nlm.nih.gov/pubmed/21495994. Accessed 1/30/2012.
  5. Karincaoglu Y, Coskun BK, Seyhan ME, Bayram N. Monilethrix: improvement with acitretin. Am J Clin Dermatol. 2005; http://www.ncbi.nlm.nih.gov/pubmed?term=16343029. Accessed 1/31/2012.
  6. Rossi A, Iorio A, Scali E, Fortuna MC, Mari E, Palese E, Greco P, Carlesimo M. Monilethrix treated with minoxidil. Int J Immunopathol Pharmacol. 2011; http://www.ncbi.nlm.nih.gov/pubmed?term=21496408. Accessed 1/31/2012.