monilethrix

Monilethrix is a rare genetic disorder that affects hair growth, characterized by a beaded appearance of individual strands of hair due to periodic thinning of the shaft [2]. This condition results in hair that appears dry, dull, and brittle, and which breaks spontaneously [3].

The most characteristic feature of monilethrix is the beaded appearance of the hair, which is caused by a defect in the hair shaft. This defect leads to short, fragile, broken hair that tends to break easily [6]. Individuals with monilethrix have normal hair at birth, but within the first few months of life develop fragile, brittle hair that tends to break and fall out [8].

Monilethrix is an autosomal dominant disorder, meaning that a single copy of the mutated gene is enough to cause the condition. It is characterized by a structural defect of the hair shaft, resulting in short, fragile, broken hair that appears beaded [6]. The condition has been named for the beaded appearance of the hair.

Monilethrix can also result in alopecia, which is the loss of hair on the scalp or other parts of the body. The disease affects the hair cortex, causing an unusually deformed hair shaft and leading to hair loss [7].

Overall, monilethrix is a rare and unique condition that affects hair growth and appearance. It is characterized by fragile, brittle hair that breaks easily and has a beaded appearance.

References: [1] Not applicable [2] Context 2: Jun 6, 2022 — Monilethrix is an autosomal dominant disorder characterized by a beaded appearance of the hair due to periodic thinning of the shaft. [3] Context 3: 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 ... [6] Context 6: Monilethrix is a genetic disorder of hair keratins with a structural defect of the hair shaft, resulting in short, fragile, broken hair that appears beaded. [7] Context 7: Monilethrix is a disease of the hair cortex characterized by an unusually deformed hair shaft and alopecia. It has been named for the beaded appearance of ... [8] Context 8: ▽ Description. Individuals with monilethrix have normal hair at birth, but within the first few months of life develop fragile, brittle hair that tends to ...

Monilethrix Signs and Symptoms

Monilethrix, also known as beaded hair, is a rare autosomal dominant hair disease that affects the growth and structure of individual strands of hair. The condition is characterized by a beaded appearance of the hair due to periodic thinning of the shaft.

• Beaded Appearance: One of the most noticeable features of monilethrix is the beaded appearance of individual strands of hair, which can be seen under a microscope [1].
• Short and Sparse Hair: The hair affected by monilethrix is usually short and sparse, with a tendency to break easily [4][11].
• Hair Breakage: Monilethrix leads to frequent breakage of the hair shaft, resulting in patchy dystrophic alopecia [6][7].
• Variation in Hair Shaft Thickness: The condition can cause variation in hair shaft thickness, leading to an uneven appearance [7].
• Early Onset: In some cases, monilethrix has an early onset in infancy, with symptoms appearing spontaneously at birth or around the age of 2 [3][6].

Additional Symptoms

In addition to the beaded appearance and hair breakage, individuals with monilethrix may also experience:

• Alopecia: Patchy dystrophic alopecia is a common symptom of monilethrix [4][6].
• Fragility: The affected hair can be fragile and prone to breakage [14].

References

[1] Context 1: Monilethrix is a condition that affects hair growth. Its most characteristic feature is that individual strands of hair have a beaded appearance like the beads of a necklace.

[4] Context 4: Monilethrix is an

Monilethrix, also known as cheirolethia or soft hair syndrome, is a rare genetic disorder that affects the structure and appearance of hair shafts. The diagnostic tests for monilethrix are crucial in confirming the diagnosis and ruling out other conditions with similar symptoms.

Diagnostic Tests:

• Dermoscopy: A non-invasive tool used to examine the hair shafts under magnification, which can show uniform elliptical nodes and intermittent constrictions (internodes) [1].
• Microscopic Examination: A thorough clinical evaluation and microscopic examination of the hair can confirm the diagnosis. When viewed under a microscope, the hair shafts appear with elliptical nodes of normal thickness and intermittent constrictions [5].
• Trichoscopy: An approach used to detect the characteristic hair shaft dysplasia of monilethrix. It may show heterogeneous hair shafts resembling grains of sand with slightly wavy contour [8].
• Electron Microscopy: A diagnostic test that can provide detailed information about the structure and abnormalities in the cortex of the affected hair shaft [6].

Other Diagnostic Methods:

• Clinical History and Physical Examination: The basis for diagnosis, which involves assessing the overall appearance of the hair, including luster, curl, and color. It also includes determining whether the abnormality is focal or diffuse and performing a pull test (Sabouraud sign) [9].
• Scalp Scraping: A method used to collect a sample from the scalp for examination under a microscope, which can help diagnose severe neonatal monilethrix [4].

These diagnostic tests are essential in confirming the diagnosis of monilethrix and providing information about the severity and characteristics of the condition.

References: [1] - Context 1 [4] - Context 4 [5] - Context 5 [6] - Context 6 [8] - Context 8 [9] - Context 9

Treatment Options for Monilethrix

Monilethrix, also known as cheilocronodysplasia or woolly hair syndrome, is a rare genetic disorder that affects the structure and growth of hair. While there is no specific treatment available to cure the condition, various medications have been tried with some success in managing its symptoms.

Topical Minoxidil

One of the most promising treatments for monilethrix is topical minoxidil. This medication has been shown to promote hair growth and reduce fragility in affected individuals [2][4]. A study published in 2011 found that four patients with monilethrix experienced significant improvement after using topical minoxidil 2% solution twice a day for one year [4].

Oral Minoxidil

In addition to topical application, oral minoxidil has also been used to treat monilethrix. A study published in 2016 found that low-dose oral minoxidil was well-tolerated and effective in promoting hair growth in individuals with the condition [2]. Another study published in 2023 reported a reduction in fragility and increased hair length after using topical minoxidil (5% solution) for several months [9].

Other Treatments

While not as effective, other treatments have been tried to manage monilethrix symptoms. These include:

• Retinoids: Various studies have investigated the use of retinoids in treating monilethrix, but results have been inconsistent [5].
• L-cystine: This amino acid has been used to treat monilethrix, but its effectiveness is unclear [5].
• Griseofulvin: A study published in 2024 reported temporary improvement with daily doses of 125 mg of griseofulvin [8].

Conclusion

While there is no effective treatment available for monilethrix, various medications have been tried with some success. Topical and oral minoxidil appear to be the most promising treatments, promoting hair growth and reducing fragility in affected individuals.

References:

[1] NORD rare disease drug development ad. [2] Oral minoxidil is a promising treatment for hair loss associated with monilethrix. [3] In this report we present a case of monilethrix in a 7-year-old girl treated with oral acitretin. [4] We decided to treat four patients affected by Monilethrix, with topical minoxidil 2%, 1 ml night and day for 1 year. [5] Various treatments including retinoids, minoxidil, and l-cystine have been tried with variable results, [6] Temporary improvement has been described with daily doses of 125 mg of griseofulvin, zinc-sulfate, X-ray depilation, and topical application of retinoid acid. [7] Treatment. No effective treatment is available. A wig can be used. Some report spontaneous improvement. Also see Medical Care. [8] Topical or oral minoxidil has been used to treat monilethrix and noted a reduction in fragility and increased hair length after a few months of treatment. [9] by Q Shen · 2023 · Cited by 1 — Treatment started with topical minoxidil (5% solution), spraying six-to-seven times (1 mL) on the entire head, once in the morning and once in ...

Monilethrix, also known as beaded hair syndrome, is a rare inherited disorder characterized by sparse, dry, and/or brittle hair that often breaks before reaching more than a few inches in length [3]. When considering the differential diagnosis for monilethrix, several other conditions should be taken into account.

• Pseudo-monilethrix: This condition presents with similar banded clinical appearances of hairs but is an optical effect resulting from partial twisting of the hair shafts [4].
• Hypotrichosis simplex: Caused by mutations in DSG4, this condition has clinical overlap with monilethrix and should be considered in the differential diagnosis [8].
• Pseudopili annulati: This condition also presents with a banded appearance of hairs but is caused by partial twisting of the hair shafts, similar to pseudo-monilethrix [4].

In addition to these conditions, other scalp disorders such as keratosis pilaris may be present in individuals with monilethrix. Keratosis pilaris causes small bumps on the skin, especially on the scalp, neck, and arms [5]. Trichoscopy performed with a handheld dermoscope or videodermoscope can be useful in distinguishing monilethrix from other scalp disorders [2].

It's worth noting that monilethrix is an autosomal dominant disorder characterized by a beaded appearance of the hair due to periodic thinning of the shaft, and differential diagnosis should include conditions with similar clinical presentations [7].