Monilethrix

Monilethrix
Synonyms	Moniliform hair syndrome
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Monilethrix (also referred to as beaded hair)<ref name="Andrews">,

 Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.), 
  
 Saunders, 
 2005, 
  
  
 ISBN 978-0-7216-2921-6,</ref> is a rare autosomal dominant hair disease that results in short, fragile, broken hair that appears beaded.<ref name=mad>, 
 Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance, 
 Genetic Counseling (Geneva, Switzerland), 
 2009,
 Vol. 20(Issue: 1),
 pp. 1–8,
 
 PMID: 19400537,</ref><ref name="Fitz2">{{{last}}}, 
 Freedberg, 
  
 Fitzpatrick's Dermatology in General Medicine (6th ed.), 
  
 McGraw-Hill, 
 2003, 
  
  
 ISBN 978-0-07-138076-8,</ref>  It comes from the Latin word for necklace (monile) and the Greek word for hair (thrix).<ref>

Genetic and Rare Diseases Information Center. Monilethrix(link). {{{website}}}. NIH Office of Rare Diseases Research. 2008-09-09.

</ref>

Presentation

The presentation may be of alopecia (baldness). Individuals vary in severity of symptoms. Nail deformities may also be present as well as hair follicle keratosis and follicular hyperkeratosis.

Cause

Monilethrix has an autosomal dominant pattern of inheritance.

Monilethrix is caused by mutations affecting the genes KRTHB1 (KRT81), KRTHB3 (KRT83), or KRTHB6 (KRT86) which code for type II hair cortex keratins.<ref name="pmid16702971">Schweizer J,

 More than one gene involved in monilethrix: intracellular but also extracellular players, 
 J. Invest. Dermatol., 
 2006,
 Vol. 126(Issue: 6),
 pp. 1216–9,
 DOI: 10.1038/sj.jid.5700266,
 PMID: 16702971,</ref> The disorder is inherited in an autosomal dominant manner.<ref name=mad/> This means that the defective gene(s) responsible for the disorder is located on an autosome, and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.

Diagnosis

Monilethrix may be diagnosed with trichoscopy.<ref>,

 Trichoscopy: a new method for diagnosing hair loss, 
 J Drugs Dermatol, 
 2008,
 Vol. 7(Issue: 7),
 pp. 651–654,
 
 PMID: 18664157,</ref><ref>, 
 Trichoscopy in genetic hair shaft abnormalities, 
 J Dermatol Case Rep, 
 2008,
 Vol. 2(Issue: 2),
 pp. 14–20,
 DOI: 10.3315/jdcr.2008.1009,
 PMID: 21886705,
 PMC: 3157768,</ref>

Management

• Unfortunately, the is no cure for monilethrix.
• Some patients have reported spontaneous improvement, particularly during puberty and pregnancy, but the condition rarely disappears completely.
• 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.
• The systemic administration of vitamins, retinoids, griseofulvin, oral contraceptives, steroids, radiation therapy, external desquamative ointments, and steroid preparations have not show impressive results.
• 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.

See also

• List of cutaneous conditions
• List of conditions caused by problems with junctional proteins
• List of cutaneous conditions caused by mutations in keratins