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{{Infobox medical condition (new)
{{Short description|A rare genetic disorder affecting hair structure}}
| synonyms        = Moniliform hair syndrome
{{Medical resources}}
| name            = Monilethrix
| image          = Monilethrix hair.jpg
| caption        = Beaded hair (60x magnification).
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'''Monilethrix''' (also referred to as '''beaded hair''')<ref name="Andrews">{{cite book |vauthors=James W, Berger T, Elston D |year=2005 |title=Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.) |publisher=Saunders |isbn=978-0-7216-2921-6}}</ref> is a rare [[autosome|autosomal]] [[dominance (genetics)|dominant]] hair disease that results in short, fragile, broken [[hair]] that appears beaded.<ref name=mad>{{Cite journal | pmid = 19400537 | year = 2009 | last1 = Celep | first1 = F. | last2 = Uzumcu | first2 = A. | last3 = Sonmez | first3 = F. | last4 = Uyguner | first4 = O. | last5 = Balci | first5 = Y. | last6 = Bahadir | first6 = S. | last7 = Karaguzel | first7 = A. | title = Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance | volume = 20 | issue = 1 | pages = 1–8 | journal = Genetic Counseling (Geneva, Switzerland)}}</ref><ref name="Fitz2">{{cite book |author=Freedberg|year=2003 |title=Fitzpatrick's Dermatology in General Medicine (6th ed.) |publisher=McGraw-Hill |isbn=978-0-07-138076-8 |page=639|display-authors=etal}}</ref>  It comes from the Latin word for [[necklace]] (''monile'') and the Greek word for hair (''thrix'').<ref>{{Cite web|author=Genetic and Rare Diseases Information Center|date=2008-09-09|url=http://rarediseases.info.nih.gov/GARD/Condition/93/QnA/21422/Monilethrix.aspx#491|title=Monilethrix|publisher=[[NIH]] Office of Rare Diseases Research|accessdate=2011-01-15}}</ref>


==Presentation==
'''Monilethrix''' is a rare genetic disorder that affects the structure of the hair shaft, leading to hair fragility and breakage. The condition is characterized by a distinctive beaded appearance of the hair, which is due to periodic narrowing of the hair shaft. This article provides an overview of the causes, symptoms, diagnosis, and management of monilethrix.
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 ==
==Causes==
[[Image:Autosomal dominant - en.svg|thumb|right|Monilethrix has an autosomal dominant pattern of [[heredity|inheritance]].]]
Monilethrix is primarily caused by mutations in the [[KRT81]], [[KRT83]], and [[KRT86]] genes, which encode for type II hair [[keratin]] proteins. These proteins are essential components of the hair shaft, providing structural integrity and strength. Mutations in these genes lead to the abnormal formation of the hair shaft, resulting in the characteristic beaded appearance.


Monilethrix is caused by mutations affecting the genes KRTHB1 ([[KRT81]]), KRTHB3 ([[KRT83]]), or KRTHB6 ([[KRT86]]) which code for [[Type II hair keratin|type II hair cortex]] [[keratins]].<ref name="pmid16702971">{{cite journal |author=Schweizer J |title=More than one gene involved in monilethrix: intracellular but also extracellular players |journal=J. Invest. Dermatol. |volume=126 |issue=6 |pages=1216–9 |year=2006 |pmid=16702971 |doi=10.1038/sj.jid.5700266|doi-access=free }}</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.
The condition is usually inherited in an [[autosomal dominant]] pattern, meaning that a single copy of the mutated gene from an affected parent can cause the disorder. However, there are also cases of [[autosomal recessive]] inheritance, where two copies of the mutated gene are necessary for the condition to manifest.


== Diagnosis ==
==Symptoms==
Monilethrix may be diagnosed with [[trichoscopy]].<ref>{{Cite journal|vauthors=Rudnicka L, Olszewska M, Rakowska A, Kowalska-Oledzka E, Slowinska M |title= Trichoscopy: a new method for diagnosing hair loss |journal= J Drugs Dermatol |volume=7 |issue=7 |pages=651–654 |year=2008 |pmid=18664157 }}</ref><ref>{{Cite journal|vauthors=Rakowska A, Slowinska M, Kowalska-Oledzka E, Rudnicka L |title= Trichoscopy in genetic hair shaft abnormalities |journal= J Dermatol Case Rep|volume=2|issue=2 |pages=14–20 |year=2008 |doi=10.3315/jdcr.2008.1009|pmid= 21886705|pmc= 3157768 }}</ref>
The primary symptom of monilethrix is the presence of fragile, brittle hair that breaks easily. The hair often appears beaded or segmented, with alternating nodes and constrictions along the shaft. This beaded appearance is most commonly observed on the scalp, but it can also affect other areas of the body, such as the eyebrows, eyelashes, and body hair.
 
Individuals with monilethrix may experience [[alopecia]], or hair loss, due to the fragility of the hair. The severity of hair loss can vary widely among affected individuals, ranging from mild thinning to significant baldness.
 
==Diagnosis==
Diagnosis of monilethrix is typically based on clinical examination and the characteristic appearance of the hair under a microscope. A [[trichogram]], or hair analysis, can reveal the beaded structure of the hair shaft, confirming the diagnosis.
 
Genetic testing can also be performed to identify mutations in the KRT81, KRT83, or KRT86 genes, providing a definitive diagnosis. This is particularly useful for confirming the diagnosis in atypical cases or for genetic counseling purposes.


==Management==
==Management==
* Unfortunately, the is no cure for monilethrix.  
There is currently no cure for monilethrix, and management focuses on minimizing hair damage and improving cosmetic appearance. Gentle hair care practices, such as avoiding harsh chemicals and heat styling, can help reduce hair breakage.
* 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.
In some cases, topical treatments such as [[minoxidil]] may be used to promote hair growth, although their effectiveness can vary. Patients are often advised to use mild shampoos and conditioners to maintain hair health.
* The systemic administration of vitamins, [[Retinoid|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 ==
==Prognosis==
* [[List of cutaneous conditions]]
The prognosis for individuals with monilethrix varies. Some individuals may experience improvement in hair growth and strength with age, while others may continue to have fragile hair throughout their lives. The condition does not affect overall health or life expectancy.
* [[List of conditions caused by problems with junctional proteins]]
* [[List of cutaneous conditions caused by mutations in keratins]]


== References ==
==Related pages==
{{reflist}}
* [[Hair disorders]]
== External links ==
* [[Genetic disorders]]
{{Medical resources
* [[Keratin]]
|  DiseasesDB    = 29592
* [[Alopecia]]
|  ICD10          = {{ICD10|Q|84|1|q|80}} ([[ILDS]] Q84.140)
|  ICD9          = {{ICD9|757.4}}
|  ICDO          = 
|  OMIM          = 158000
|  MedlinePlus    = 
|  eMedicineSubj  = derm
|  eMedicineTopic = 763
|  MeshID        = 
|  Orphanet      = 573
}}
{{Congenital malformations and deformations of skin appendages}}
{{Cytoskeletal defects}}


[[Category:Conditions of the skin appendages]]
[[Category:Genetic disorders]]
[[Category:Autosomal dominant disorders]]
[[Category:Rare diseases]]
[[Category:Cytoskeletal defects]]
[[Category:Human hair]]
[[Category:Hair diseases]]
[[Category:Hair diseases]]
{{genetic-disorder-stub}}
{{skin-appendage-stub}}

Revision as of 19:26, 22 March 2025

A rare genetic disorder affecting hair structure



Monilethrix is a rare genetic disorder that affects the structure of the hair shaft, leading to hair fragility and breakage. The condition is characterized by a distinctive beaded appearance of the hair, which is due to periodic narrowing of the hair shaft. This article provides an overview of the causes, symptoms, diagnosis, and management of monilethrix.

Causes

Monilethrix is primarily caused by mutations in the KRT81, KRT83, and KRT86 genes, which encode for type II hair keratin proteins. These proteins are essential components of the hair shaft, providing structural integrity and strength. Mutations in these genes lead to the abnormal formation of the hair shaft, resulting in the characteristic beaded appearance.

The condition is usually inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene from an affected parent can cause the disorder. However, there are also cases of autosomal recessive inheritance, where two copies of the mutated gene are necessary for the condition to manifest.

Symptoms

The primary symptom of monilethrix is the presence of fragile, brittle hair that breaks easily. The hair often appears beaded or segmented, with alternating nodes and constrictions along the shaft. This beaded appearance is most commonly observed on the scalp, but it can also affect other areas of the body, such as the eyebrows, eyelashes, and body hair.

Individuals with monilethrix may experience alopecia, or hair loss, due to the fragility of the hair. The severity of hair loss can vary widely among affected individuals, ranging from mild thinning to significant baldness.

Diagnosis

Diagnosis of monilethrix is typically based on clinical examination and the characteristic appearance of the hair under a microscope. A trichogram, or hair analysis, can reveal the beaded structure of the hair shaft, confirming the diagnosis.

Genetic testing can also be performed to identify mutations in the KRT81, KRT83, or KRT86 genes, providing a definitive diagnosis. This is particularly useful for confirming the diagnosis in atypical cases or for genetic counseling purposes.

Management

There is currently no cure for monilethrix, and management focuses on minimizing hair damage and improving cosmetic appearance. Gentle hair care practices, such as avoiding harsh chemicals and heat styling, can help reduce hair breakage.

In some cases, topical treatments such as minoxidil may be used to promote hair growth, although their effectiveness can vary. Patients are often advised to use mild shampoos and conditioners to maintain hair health.

Prognosis

The prognosis for individuals with monilethrix varies. Some individuals may experience improvement in hair growth and strength with age, while others may continue to have fragile hair throughout their lives. The condition does not affect overall health or life expectancy.

Related pages

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