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(a) Dermoscopy of axilla showing sparse axillary hair with alternate nodes and internodes, broken hair, and bend hairs. (b) Dermoscopy of eyebrows showing broken (white arrow), bend (red arrow), and split hair (blue arrow) in addition to nodes and internodes b a
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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 t...
Citations
... Based on the findings coming from two case-control studies [8,12], one case-series [62], and three single case-reports [63][64][65] (for a total of eight patients), beaded hair with equidistant nodes and internodes, broken hairs, and a tendency for the hair to bend and break at the internodes (referred to as the "regularly bended ribbon sign") are the main hair shaft abnormalities seen on trichoscopy in monilethrix. ...
air and scalp disorders are of significant interest for physicians dealing with dark phototypes due to their prevalence and potential aesthetic impact resulting from a higher tendency for scarring. In order to facilitate their non-invasive diagnosis, several dermoscopic studies have been published, yet data are sparse and no systematic analysis of the literature has been performed so far. This systematic literature review summarizes published data on trichoscopy of hair and scalp diseases (trichoscopic findings, used setting, pathological correlation, and level of evidence of studies). A total of 60 papers addressing 19 different disorders (eight non-cicatricial alopecias, nine cicatricial alopecias, and two hair shaft disorders) were assessed, for a total of 2636 instances. They included one cross-sectional analysis, 20 case-control studies, 25 case-series, and 14 single case-reports, so the level of evidence was V and IV in 65% and 33% of cases, respectively, with only one study showing a level of evidence of III. Notably, although there is a considerable body of literature on trichoscopy of hair/scalp diseases, our review underlined that potentially significant variables (e.g., disease stage or hair texture) are often not taken into account in published analyses, with possible biases on trichoscopic patterns, especially when it comes to hair shaft changes. Further analyses considering all such issues are therefore needed.
... Monilethrix regular constrictions of the shaft with elliptical nodes separated by internodes [64,76,87,107], regularly bent ribbon sign [7,43,88,89,93] or beaded appearance [48,106] rosary beads with nodes and constrictions [54] vessels with a narrow proximal tail and a dilated distal head, surrounded by a whitish halo, parallel binary tortuous capillaries [68,91] (0 patients) ...
(1) Background: Genodermatoses are a clinically and genetically heterogenous group of inherited skin disorders. Diagnosing inherited skin diseases is a challenging task due to their rarity and diversity. Dermoscopy is a non-invasive, easily accessible, and rapid tool used in dermatology not only for diagnostic processes but also for monitoring therapeutic responses. Standardized terminologies have been published for its proper use, reproducibility, and comparability of dermoscopic terms. (2) Methods: Here, we aimed to investigate dermoscopic features in various genodermatoses by conducting a systematic review and comparing its results to our own findings, data of patients diagnosed with genodermatoses at the Department of Dermatology, Venereology and Dermatooncology, Semmelweis University. (3) Results: Our systematic search provided a total of 471 articles, of which 83 reported both descriptive and metaphoric dermoscopic terminologies of 14 genodermatoses. The literature data were then compared to the data of 119 patients with 14 genodermatoses diagnosed in our department. (4) Conclusion: Dermoscopy is a valuable tool in the diagnosis of genodermatoses, especially when symptoms are mild. To enable the use of dermoscopy as an auxiliary diagnostic method, existing standardized terminologies should be extended to more genodermatoses.
... Based on the findings coming from two case-control studies [8,12], one case-series [62], and three single case-reports [63][64][65] (for a total of eight patients), beaded hair with equidistant nodes and internodes, broken hairs, and a tendency for the hair to bend and break at the internodes (referred to as the "regularly bended ribbon sign") are the main hair shaft abnormalities seen on trichoscopy in monilethrix. ...
Hair and scalp disorders are of significant interest for physicians dealing with dark phototypes due to their prevalence and potential aesthetic impact resulting from a higher tendency for scarring. In order to facilitate their non-invasive diagnosis, several dermoscopic studies have been published, yet data are sparse and no systematic analysis of the literature has been performed so far. This systematic literature review summarizes published data on trichoscopy of hair and scalp diseases (trichoscopic findings, used setting, pathological correlation, and level of evidence of studies). A total of 60 papers addressing 19 different disorders (eight non-cicatricial alopecias, nine cicatricial alopecias, and two hair shaft disorders) were assessed, for a total of 2636 instances. They included one cross-sectional analysis, 20 case-control studies, 25 case-series, and 14 single case-reports, so the level of evidence was V and IV in 65% and 33% of cases, respectively, with only one study showing a level of evidence of III. Notably, although there is a considerable body of literature on trichoscopy of hair/scalp diseases, our review underlined that potentially significant variables (e.g., disease stage or hair texture) are often not taken into account in published analyses, with possible biases on trichoscopic patterns, especially when it comes to hair shaft changes. Further analyses considering all such issues are therefore needed.
... Autosomal recessive cases have also been mentioned in the literature. [3,4] A mutation in the genes encoding human basic hair keratins hHb1, hHb2, and hHb6, which are located on chromosome 12q11-q13 is the most common mutation leading to this condition. [3] Patients carrying a mutation in hHb1 have normal hair at birth, but they develop hair shaft abnormalities after a few months. ...
... Recent studies showed the mutations associated with the autosomal dominant type of monilethrix are those in exon 1 and 7 of KRT86, KRT81, and KRT83 genes, whereas the autosomal recessive type is associated with a mutation in desmoglein-4. [1,[3][4][5] A considerable variation is seen in the age of onset, the course of the disease, and the severity, which may or may not be related to the genotype. Patients usually have short, lustreless, brittle hair with perifollicular erythema, and follicular hyperkeratosis. ...
... Monilethrix can be associated with other abnormalities like trichorrhexis nodosa, nail abnormalities like koilonychia, dental abnormalities, juvenile cataract, blepharitis, pannus, syndactyly, and growth retardation. [4] Monilethrix has to be differentiated from other conditions with hair shaft abnormalities like pseudo-monilethrix, pili torti, and trichorrhexis nodosa, which can be achieved by cytological examination. Pseudomonilethrix is a genetic condition in which there is beaded appearance of hair but at irregular intervals. ...
... Monilethrix has also been associated with many other clinical features including koilonychia, syndactyly, cataract, blepharitis, pannus, and dental abnormality. [2] Mutations in the keratin genes KRT81, KRT83, and KRT86 followed autosomal dominant inheritance in monilethrix. [3] whereas the desmoglein 4 (DSG4) genetic mutation exhibit autosomal recessive inheritance pattern. ...
