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The Journal of Pediatrics Sep 2020
Topics: Alopecia; Child, Preschool; Hair; Humans; Male; Monilethrix
PubMed: 32446725
DOI: 10.1016/j.jpeds.2020.05.024 -
CMAJ : Canadian Medical Association... Jul 2018
Topics: Alopecia; Child, Preschool; Dermoscopy; Female; Hair; Humans; Monilethrix
PubMed: 30061326
DOI: 10.1503/cmaj.180273 -
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 -
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 -
Dermatology Online Journal Jul 2017Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia responsible for hypotrichosis. We report the case of a child with monilethrix with no...
Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia responsible for hypotrichosis. We report the case of a child with monilethrix with no associated cases in the family. Trichoscopy facilitated the diagnosis. A 2-year-old boy presented with diffuse alopecia and persistent fragile hair for several months. Clinical examination revealed alopecia with hairs broken several millimeters from the scalp. Trichoscopy revealed zones of dystrophic constriction of the hair shaft, separated at regular intervals by elliptical nodes of normal thickness, giving a "necklace" appearance. The diagnosis of monilethrix was made on the basis of these specific features. The diagnosis of monilethrix was more difficult to establish in our patient owing to the absence of any familial cases.
Topics: Alopecia; Child, Preschool; Dermoscopy; Hair; Humans; Male; Monilethrix
PubMed: 29469711
DOI: No ID Found -
International Journal of Trichology 2018Hair loss is a common and distressing clinical complaint in the dermatology clinics. Common causes of hair loss in children include alopecia areata, tinea capitis,...
INTRODUCTION
Hair loss is a common and distressing clinical complaint in the dermatology clinics. Common causes of hair loss in children include alopecia areata, tinea capitis, traction alopecia, and trichotillomania. Newly, trichoscopy allows differential diagnosis of hair loss in most cases and allows visualization of hair shafts and scalps without the need of removing hair.
OBJECTIVE
The main objective is to compare the different trichoscopic features of common causes of patchy hair in children loss including tinea capitis, alopecia areata, traction alopecia, and trichotillomania.
PATIENTS AND METHODS
This study included 134 patients, 63 patients with tinea capitis, 38 patients with alopecia areata, 18 patients with traction alopecia, and 15 patients with trichotillomania. The diagnostic tools for the diagnosis of hair loss problem included a detailed history, evaluation of the child's hair and scalp, fungal scrapping, and trichoscopy.
RESULTS
Tinea capitis was the most common, and the trichoscopic features were comma-shaped hairs, corkscrew hairs, short broken hairs, and interrupted hairs. While in alopecia areata patients, the most specific features were yellow dots and black dots, microexclamation mark, hair shafts with variable thickness, and vellus hairs, with uncommon features included: monilethrix, coiled, zigzag, and tulip hairs. Trichoscopy of trichotillomania showed hair with fraying of ends, breakage at different lengths, short and coiled hairs, and amorphous hair residues. The trichoscopic features of traction alopecia were similar to those of trichotillomania. However, flame hairs and coiled hairs were less common.
CONCLUSIONS
Trichoscopy is a noninvasive method of examining hair and scalp. It allows differential diagnosis of hair loss in most cases.
PubMed: 30386074
DOI: 10.4103/ijt.ijt_101_17 -
International Journal of Trichology 2020
PubMed: 33531747
DOI: 10.4103/ijt.ijt_104_19 -
Indian Dermatology Online Journal 2018
PubMed: 30050820
DOI: 10.4103/idoj.IDOJ_234_17