-
Indian Journal of Dermatology and... 1972
PubMed: 29144324
DOI: No ID Found -
Molecular Genetics & Genomic Medicine Apr 2022Monilethrix is a rare hereditary hair loss disorder characterized by hair fragility and beaded hair shaft alterations. Monilethrix is classically inherited in an...
BACKGROUND
Monilethrix is a rare hereditary hair loss disorder characterized by hair fragility and beaded hair shaft alterations. Monilethrix is classically inherited in an autosomal dominant (AD) fashion caused by variants in the hair keratin genes KRT81, KRT83, or KRT86. Interestingly, an autosomal recessive (AR) form of monilethrix with variants in DSG4 gene has also been reported in recent years.
OBJECTIVE
To identify causative variants in Chinese patients with autosomal recessive (AR) form of monilethrix.
METHODS
Three families with AR form of monilethrix were observed and sequence variant analysis of DSG4 was performed by polymerase chain reaction (PCR), quantitative real-time PCR, and DNA sequencing.
RESULTS
All the patients had sparse, fragile hair involving the scalp, eyebrows, and eyelashes with keratotic follicular papules and pruritus since birth. Atypical-beaded hairs and broken hair shaft fragments were identified in all the patients under dermoscopy. Heterozygous variants c.837del and c. 2389C > T, a homozygous splice site variant c.2355 + 1G > A, and a homozygous 48,644 bp large deletion variant g.31381440_31430084del in the DSG4 gene were identified and verified in the families.
CONCLUSION
This report provided further evidence for the phenotypic spectrum and clinical features of, and the expanded variant database of AR form of monilethrix.
Topics: Alopecia; China; Desmogleins; Hair; Humans; Monilethrix
PubMed: 35146972
DOI: 10.1002/mgg3.1889 -
International Journal of Trichology 2020
PubMed: 33531747
DOI: 10.4103/ijt.ijt_104_19 -
American Journal of Clinical Dermatology Apr 2019Topical minoxidil is a well-known and often-utilized drug in dermatological practice for the treatment of alopecia. It was approved by the United States Food and Drug... (Review)
Review
Topical minoxidil is a well-known and often-utilized drug in dermatological practice for the treatment of alopecia. It was approved by the United States Food and Drug Administration for the treatment of androgenetic alopecia in 1988. Since its approval, minoxidil has been used off-label for the treatment of many other types of alopecia, with minimal formal evidence of efficacy. Conditions for which the use of topical minoxidil has been reported include telogen effluvium, alopecia areata (AA), scarring alopecia, eyebrow hypotrichosis, monilethrix, and chemotherapy-induced alopecia (CIA). The evidence for the use of minoxidil in each condition is derived from a variety of studies, including clinical trials, case series, and case reports. A comprehensive review of the literature indicates that while minoxidil is routinely used in the management of many alopecic conditions, there is mixed evidence for its efficacy. For certain conditions, including AA and most scarring alopecias, the evidence seems to be inconclusive. For others, such as eyebrow hypotrichosis, monilethrix, early traction alopecia, and CIA, there is more support for the efficacy of minoxidil. Although the favorable safety profile of minoxidil is established in adults, its use in the treatment of pediatric alopecia may require heightened monitoring and patient education.
Topics: Administration, Topical; Adult; Alopecia; Animals; Humans; Minoxidil; Off-Label Use; Treatment Outcome; Vasodilator Agents
PubMed: 30604379
DOI: 10.1007/s40257-018-0409-y -
Indian Journal of Dermatology May 2013Monilethrix is a rare hereditary condition generally considered to be an autosomal-dominant disorder with variable penetrance. Here, we report a case of monilethrix in a...
Monilethrix is a rare hereditary condition generally considered to be an autosomal-dominant disorder with variable penetrance. Here, we report a case of monilethrix in a 13-year-old boy with an affected sibling. A therapeutic trial with oral N-acetyl cysteine was attempted. There was slight improvement after 2 months of therapy. The hair density, however, did not show any further improvement subsequently. Monilethrix remains as a therapeutic challenge for dermatologists.
PubMed: 23723505
DOI: 10.4103/0019-5154.110869 -
International Journal of Trichology Jan 2013Monilethrix is a rare autosomal dominant hair shaft disorder with variable expressivity. It usually presents with short broken scalp hairs and follicular hyperkeratosis....
Monilethrix is a rare autosomal dominant hair shaft disorder with variable expressivity. It usually presents with short broken scalp hairs and follicular hyperkeratosis. Light microscopy of hair reveals a beaded appearance. Here, we report the case of a 32-year-old male who presented with sparse hair and follicular keratotic papules in the absence of any family history.
PubMed: 23960403
DOI: 10.4103/0974-7753.114703 -
International Journal of... 2011In literature many different therapies are proposed to treat Monilethrix, but a definitive therapy still doe not exist. We decided to treat four patients affected by...
In literature many different therapies are proposed to treat Monilethrix, but a definitive therapy still doe not exist. We decided to treat four patients affected by Monilethrix, with topical minoxidil 2%, 1 ml night and day for 1 year. Minoxidil led to a an increase of normal hair shaft without any side effects in all the patients. Therefore topical minoxidil 2% could be considered a good therapy to treat Monilethrix.
Topics: Administration, Topical; Child; Child, Preschool; Female; Humans; Male; Middle Aged; Minoxidil; Monilethrix
PubMed: 21496408
DOI: 10.1177/039463201102400129 -
Journal of Cutaneous Pathology Dec 1984Characteristic moniliform hairs of monilethrix were ultrastructurally examined. By scanning electron microscope, nodes and internodes were seen alternating on the...
Characteristic moniliform hairs of monilethrix were ultrastructurally examined. By scanning electron microscope, nodes and internodes were seen alternating on the affected hair; the nodes were normal in appearance and thickness, while the internodes were thin and showed ridges and flutes. By transmission electron microscope, the cross sections of the internodes revealed wrinkling of the hair cuticular cells and a reduced number of the cortical cells. Cross sections of the cortical cells per se showed a similar size and a normal keratin pattern in both nodes and internodes, compared with those of control hairs from normal individuals. From these findings, the internodes seemed to be the pathological portions of the moniliform hair, and such abnormal thinning of hair shaft might be caused by a periodical dysfunction of the hair matrix, especially in the hair cortex.
Topics: Female; Hair; Hair Diseases; Humans; Microscopy, Electron; Microscopy, Electron, Scanning
PubMed: 6520260
DOI: 10.1111/j.1600-0560.1984.tb00412.x -
Journal of the European Academy of... Jul 2021Topical minoxidil has been used for many years as treatment for different hair disorders. Even though it is an effective therapy, many patients show poor compliance due... (Review)
Review
Topical minoxidil has been used for many years as treatment for different hair disorders. Even though it is an effective therapy, many patients show poor compliance due to the cosmesis, cost and side-effects. During the last few years, low-dose oral minoxidil has proven to be an alternative for patients with alopecia. We performed a literature search including all the articles that used oral minoxidil as a primary treatment in various hair diseases in order to evaluate the efficacy and safety of low-dose oral minoxidil as an alternative to topical minoxidil. Androgenetic alopecia was the most common studied condition, but others included telogen effluvium, tractional alopecia, postchemotherapy-induced alopecia, monilethrix, loose anagen hair syndrome, alopecia areata and scarring alopecias (frontal fibrosing alopecia and lichen planopilaris). Larger randomized comparative studies including standardized objective measurements should be done in order to clarify the best treatment protocol, including dosage and treatment duration. Oral minoxidil has proven to be a successful and well-tolerated alternative for patients with hair loss, including those with poor adherence to other therapies. Different dosing regimens have been utilized in scarring and non-scarring alopecia, varying from 0.25 to 5 mg daily. Higher doses have not been studied in men or women. Available literature suggests women require lower doses, from 0.25 to 2.5 mg daily, while men require higher doses for maximal efficacy, from 1.25 to 5 mg a day.
Topics: Alopecia; Alopecia Areata; Female; Humans; Male; Minoxidil; Monilethrix
PubMed: 33660357
DOI: 10.1111/jdv.17216 -
Indian Journal of Dermatology,... 2002Monilethrix is rare hereditary disorder which is in herited as autosomal dominant trit. We report two siblings with a combination of monilethrix and leukonychia.
Monilethrix is rare hereditary disorder which is in herited as autosomal dominant trit. We report two siblings with a combination of monilethrix and leukonychia.
PubMed: 17656942
DOI: No ID Found