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Ugeskrift For Laeger Sep 2017Monilethrix is a rare genodermatosis with high penetrance and variable expressivity. This is a case report of a Danish family with varying phenotypical presentations....
Monilethrix is a rare genodermatosis with high penetrance and variable expressivity. This is a case report of a Danish family with varying phenotypical presentations. The family members were diagnosed using dermatoscopy and microscopy, which were subsequently supported by gene sequence analysis. No cure of monilethrix exists, but a single case report shows promising results using low dosage of oral minoxidil. Reducing hair dressing trauma to diminish weathering remains the best prophylaxis.
Topics: Adult; Child; Child, Preschool; Family; Female; Genetic Testing; Humans; Male; Monilethrix
PubMed: 28918778
DOI: No ID Found -
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 -
JAAD Case Reports May 2016
PubMed: 27284572
DOI: 10.1016/j.jdcr.2016.02.011 -
International Journal of Trichology 2017
PubMed: 28839397
DOI: 10.4103/ijt.ijt_72_16 -
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 -
Skin Appendage Disorders Feb 2019
PubMed: 30815452
DOI: 10.1159/000490774 -
The Journal of Investigative Dermatology May 2015Monilethrix is a hair shaft anomaly characterized by beaded hair with periodic changes in hair thickness. Mutations in the desmoglein 4 (DSG4) gene reportedly underlie...
Monilethrix is a hair shaft anomaly characterized by beaded hair with periodic changes in hair thickness. Mutations in the desmoglein 4 (DSG4) gene reportedly underlie the autosomal recessive form of the disease. However, the pathogenesis and cellular basis for the DSG4 mutation-induced monilethrix remained largely unknown. We report a Japanese female patient with monilethrix. Observation of her hair shaft by means of transmission electron microscopy showed fewer desmosomes and abnormal keratinization. Genetic analysis revealed a homozygous mutation, c.2119delG (p.Asp707Ilefs*109), in the DSG4 gene, which was predicted to cause a frameshift and premature termination in the intracellular region of the DSG4 protein. The mutation has not been reported previously. In the patient's hair shaft, we detected reduced but partial expression of the mutant DSG4 protein. Cellular analyses demonstrated that the mutant DSG4 lost its affinity to plakoglobin and accumulated in the endoplasmic reticulum (ER). The amounts of mutant DSG4 were increased by proteasome inhibitor treatment, and the expression of an ER chaperone, GRP78/BiP, was elevated in the patient's skin. Collectively, these results suggest that the dysfunctional mutated DSG4, tethered in the ER, undergoes ER-associated degradation, leading to unfolded protein response induction, and thus ER stress may have a role in the pathogenesis of monilethrix.
Topics: Adult; Amino Acid Sequence; Desmogleins; Endoplasmic Reticulum Chaperone BiP; Endoplasmic Reticulum Stress; Female; Frameshift Mutation; Genes, Recessive; Hair Follicle; Heat-Shock Proteins; Homozygote; Humans; Microscopy, Electron, Transmission; Molecular Sequence Data; Monilethrix; Pedigree; Skin
PubMed: 25615553
DOI: 10.1038/jid.2015.12 -
International Journal of Trichology 2015Congenital hypotrichosis may be due to a number of causes and may have multiple systemic associations. A child born of second-degree consanguineous marriage was found to...
Congenital hypotrichosis may be due to a number of causes and may have multiple systemic associations. A child born of second-degree consanguineous marriage was found to have monilethrix as the cause of congenital hypotrichosis. A detailed systemic evaluation in the child revealed atrial septal defect and a hypoplastic right thumb leading to a diagnosis of coexisting Holt-Oram syndrome.
PubMed: 25878448
DOI: 10.4103/0974-7753.153455 -
Anais Brasileiros de Dermatologia 2015Monilethrix is a rare hereditary condition generally considered to be an autosomal dominant disorder with variable penetrance. A case of a 6-year-old girl without a...
Monilethrix is a rare hereditary condition generally considered to be an autosomal dominant disorder with variable penetrance. A case of a 6-year-old girl without a familial background for this disease is reported. The diagnosis was made by optic microscopy and dermoscopy. A therapeutic trial with topical minoxidil was conducted.
Topics: Administration, Cutaneous; Child; Dermoscopy; Female; Humans; Hypotrichosis; Minoxidil; Monilethrix; Treatment Outcome
PubMed: 25672313
DOI: 10.1590/abd1806-4841.20153357 -
Anais Brasileiros de Dermatologia 2024
Topics: Humans; Mutation; Pedigree; Asian People; Monilethrix; Female; Male; Penetrance; China; East Asian People; Keratins, Type II; Keratins, Hair-Specific
PubMed: 38594178
DOI: 10.1016/j.abd.2022.12.010