Monilethrix: Difference between revisions
CSV import |
CSV import |
||
| Line 1: | Line 1: | ||
{{SI}} | |||
{{Infobox medical condition | |||
| name = Monilethrix | |||
| image = [[File:Monilethrix_hair.jpg|left|thumb|Hair affected by monilethrix]] | |||
| caption = Hair affected by monilethrix | |||
| field = [[Dermatology]] | |||
| symptoms = [[Brittle hair]], [[alopecia]], [[follicular hyperkeratosis]] | |||
| onset = [[Infancy]] or [[early childhood]] | |||
| duration = [[Chronic]] | |||
| causes = [[Genetic mutation]] in [[KRT81]], [[KRT83]], or [[KRT86]] | |||
| risks = [[Family history]] | |||
| diagnosis = [[Clinical examination]], [[trichoscopy]], [[genetic testing]] | |||
| differential = [[Alopecia areata]], [[trichorrhexis nodosa]] | |||
| treatment = [[Hair care]], [[minoxidil]], [[retinoids]] | |||
| frequency = Rare | |||
}} | |||
{{Short description|A rare genetic disorder affecting hair structure}} | {{Short description|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. | |||
'''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. | |||
==Causes== | ==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. | 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. | 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== | ==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. | 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. | 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== | ||
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. | 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. | 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== | ||
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. | 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. | 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== | ==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. | 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. | ||
==See also== | |||
== | |||
* [[Hair disorders]] | * [[Hair disorders]] | ||
* [[Genetic disorders]] | * [[Genetic disorders]] | ||
* [[Keratin]] | * [[Keratin]] | ||
* [[Alopecia]] | * [[Alopecia]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Hair diseases]] | [[Category:Hair diseases]] | ||
Latest revision as of 04:15, 8 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Monilethrix | |
|---|---|
 | |
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Brittle hair, alopecia, follicular hyperkeratosis |
| Complications | N/A |
| Onset | Infancy or early childhood |
| Duration | Chronic |
| Types | N/A |
| Causes | Genetic mutation in KRT81, KRT83, or KRT86 |
| Risks | Family history |
| Diagnosis | Clinical examination, trichoscopy, genetic testing |
| Differential diagnosis | Alopecia areata, trichorrhexis nodosa |
| Prevention | N/A |
| Treatment | Hair care, minoxidil, retinoids |
| Medication | N/A |
| Prognosis | N/A |
| Frequency | Rare |
| Deaths | N/A |
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.
Causes[edit]
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[edit]
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[edit]
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[edit]
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[edit]
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.
