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Monilethrix

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Title: Monilethrix  
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Monilethrix

Monilethrix
Classification and external resources
ICD-10 Q84.1 (ILDS Q84.140)
ICD-9-CM 757.4
OMIM 158000
DiseasesDB 29592
eMedicine derm/763

Monilethrix (also referred to as beaded hair)[1] is a rare autosomal dominant hair disease that results in short, fragile, broken hair that appears beaded.[2][3] It comes from the Latin word for necklace (monile) and the Greek word for hair (thrix).[4]

Contents

  • Characteristics 1
  • Cause and Genetics 2
  • Diagnosis 3
  • See also 4
  • References 5

Characteristics

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 and Genetics

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.[5] The disorder is inherited in an autosomal dominant manner.[2] 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[6][7]

See also

References

  1. ^ James W, Berger T, Elston D (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders.  
  2. ^ a b Celep, F.; Uzumcu, A.; Sonmez, F.; Uyguner, O.; Balci, Y.; Bahadir, S.; Karaguzel, A. (2009). "Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance". Genetic counseling (Geneva, Switzerland) 20 (1): 1–8.  
  3. ^ Freedberg; et al. (2003). Fitzpatrick's Dermatology in General Medicine (6th ed.). McGraw-Hill. p. 639.  
  4. ^ Genetic and Rare Diseases Information Center (2008-09-09). "Monilethrix".  
  5. ^ Schweizer J (2006). "More than one gene involved in monilethrix: intracellular but also extracellular players". J. Invest. Dermatol. 126 (6): 1216–9.  
  6. ^ Rudnicka L, Olszewska M, Rakowska A, Kowalska-Oledzka E, Slowinska M. (2008). "Trichoscopy: a new method for diagnosing hair loss". J Drugs Dermatol 7 (7): 651–654.  
  7. ^ Rakowska A, Slowinska M, Kowalska-Oledzka E,Rudnicka L. (2008). "Trichoscopy in genetic hair shaft abnormalities". J Dermatol Case Rep 2 (2): 14–20.  
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