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Anais Brasileiros de Dermatologia Apr 2024
PubMed: 38594178
DOI: 10.1016/j.abd.2022.12.010 -
Journal of Cytology 2022
PubMed: 36605870
DOI: 10.4103/joc.joc_25_22 -
Skin Research and Technology : Official... Jan 2023To determine the causative gene mutation in a family with monilethrix and observe the therapeutic effect of 5% topical minoxidil.
OBJECTIVE
To determine the causative gene mutation in a family with monilethrix and observe the therapeutic effect of 5% topical minoxidil.
METHOD
Clinical data from a family with monilethrix were collected. Peripheral blood samples were taken from the proband, the parents, and 100 unrelated healthy controls. Genomic DNA was extracted. The genetic variation sites were screened with exome sequencing and verified by Sanger sequencing. The proband was treated with 5% topical minoxidil (1 mL twice daily). Hair quality was examined by dermoscopy before and after treatment.
RESULTS
The proband and her father have the heterozygous missense variant c.1204G > A (p.E402K) in exon 7 of the KRT86 gene. However, the mutation was not found in the mother and healthy controls. The proband was treated with 5% topical minoxidil. Hair density and hair shaft quality improved significantly after 6 months of treatment. No adverse events occurred during treatment.
CONCLUSION
This study shows that p.E402K is a mutation "hot spot" in patients with autosomal dominant monilethrix in China. Treatment with 5% topical minoxidil, is safe and effective.
Topics: Humans; Female; Monilethrix; Minoxidil; Mutation; Hair; Mothers; Alopecia; Administration, Topical
PubMed: 36382623
DOI: 10.1111/srt.13233 -
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 -
Anais Brasileiros de Dermatologia 2021Monilethrix is a rare defect of the hair shaft, with most cases showing an autosomal dominant pattern of inheritance and variable clinical expression. It is...
Monilethrix is a rare defect of the hair shaft, with most cases showing an autosomal dominant pattern of inheritance and variable clinical expression. It is characterized by hypotrichosis secondary to hair fragility. The diagnosis is made through trichoscopy, detecting typical findings such as periodic narrowing at regular intervals, giving the hair the appearance of beads in a rosary. This article reports the case of six members of a family diagnosed with monilethrix with alopecia of varying degrees.
Topics: Alopecia; Alopecia Areata; Hair; Hair Diseases; Humans; Scalp
PubMed: 34272078
DOI: 10.1016/j.abd.2020.07.019 -
International Journal of Trichology 2020
PubMed: 33531747
DOI: 10.4103/ijt.ijt_104_19 -
Dermatology Practical & Conceptual Jan 2021
PubMed: 33354398
DOI: 10.5826/dpc.1101a80 -
The Journal of Pediatrics Sep 2020
Topics: Alopecia; Child, Preschool; Hair; Humans; Male; Monilethrix
PubMed: 32446725
DOI: 10.1016/j.jpeds.2020.05.024 -
Indian Dermatology Online Journal 2020Monilethrix is a rare hereditary disorder affecting hair resulting in hair fragility and alopecia. We report three patients of monilethrix who presented with complaints...
Monilethrix is a rare hereditary disorder affecting hair resulting in hair fragility and alopecia. We report three patients of monilethrix who presented with complaints of sparse and brittle hair from early childhood. All three patients had multiple discrete hyperkeratotic papules over the scalp. Dermoscopy revealed beaded appearance of hair with the presence of elliptical nodes and intermittent constrictions on the hair shafts as well as broken hairs, which were confirmed with routine microscopic examination of hair. Dermoscopy helps in easier and faster diagnosis of monilethrix.
PubMed: 32055512
DOI: 10.4103/idoj.IDOJ_93_19