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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 -
International Journal of Trichology Oct 2013
PubMed: 24778539
DOI: 10.4103/0974-7753.130423 -
Journal of Dermatological Case Reports Dec 2011Trichoscopy performed with a handheld dermoscope or a videodermoscope became an indispensable tool in differential diagnosis of hair and scalp diseases. Current research...
Trichoscopy performed with a handheld dermoscope or a videodermoscope became an indispensable tool in differential diagnosis of hair and scalp diseases. Current research is focusing on trichoscopy of: 1) non-cicatricial alopecia, 2) cicatricial alopecia, 3) hair shaft disorders, and 4) inflammatory scalp diseases. This review summarizes current knowledge in these four fields of research. In all non-cicatricial alopecias presence of empty follicular openings is a common trichoscopy finding. In alopecia areata black dots and micro-exclamation mark hairs and tapered hairs correlate with disease activity, whereas yellow dots and vellus hairs correlate with disease severity. In androgenic alopecia trichoscopy shows hair shaft thickness heterogeneity, multiple thin and vellus hairs, yellow dots, perifollicular discoloration, and predominance of follicular units with only one hair. These features predominate in the frontal area. In all forms of cicatricial alopecia, trichoscopy shows milky-red or ivory-white areas lacking follicular openings. In classic lichen planopilaris trichoscopy shows perifollicular inflammation, tubular perifollicular scaling, elongated, concentric blood vessels and "classic white dots", which merge to form white areas. Frontal fibrosing alopecia shows mild perifollicular scaling. Folliculitis decalvans is characterized by tufted hairs, large follicular pustules with emerging hair shafts and perifollicular starburst pattern hyperplasia. In dissecting cellulitis characteristic findings are "3D" yellow dots imposed over dystrophic hairs, large, yellow amorphous areas and pinpoint white dots with a whitish halo. Trichoscopy is particularly useful to diagnose hair shaft abnormalities in trichorrhexis nodosa, trichorrhexis invaginata, monilethrix, pili torti, and pili annulati. The method may be also useful in diagnosing inflammatory scalp diseases. In discoid lupus erythematosus trichoscopy shows large arborizing vessels and large hyperkeratotic folliculilar yellow dots. Trichoscopy of scalp psoriasis shows regularly distributed twisted and lacelike blood vessels, whereas in seborroic dermatitis thin arborizing vessels may be observed. In tinea capitis trichoscopy shows comma, corkscrew and zigzag hairs. Examination tinea capitis may be facilitated by UV-light enhanced trichoscopy (UVET). In conclusion, trichoscopy is a non-invasive method which may be applied in differential diagnosis of most hair and scalp diseases.
PubMed: 22408709
DOI: 10.3315/jdcr.2011.1083 -
The Pan African Medical Journal 2013
Topics: Alopecia; Child, Preschool; Consanguinity; Diagnosis, Differential; Female; Humans; Monilethrix; Siblings
PubMed: 24147179
DOI: 10.11604/pamj.2013.15.53.2719 -
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 -
Indian Journal of Dermatology and... 1972
PubMed: 29144324
DOI: No ID Found -
Proceedings of the Royal Society of... Jun 1929
PubMed: 19987037
DOI: No ID Found -
The Ulster Medical Journal Nov 1956
Topics: Hair; Hair Diseases; Humans; Monilethrix
PubMed: 13401564
DOI: No ID Found