Autosomal recessive monilethrix: Novel variants of the <i>DSG4</i> gene in three Chinese families

Zhou, Cheng; Wang, Pei; Yang, Dingquan; Liao, Wenjun; Guo, Qing; Li, Jiacheng; Wen, Guangdong; Zheng, Shuying; Zhang, Xue; Wang, Rongrong; Zhang, Jianzhong

doi:10.1002/mgg3.1889

Cited by 5 publications

(5 citation statements)

References 18 publications

(16 reference statements)

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“…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] irregular atypical beads [108] 100% (2 patients) Darier disease reddish/white longitudinal nail bands with a V-shaped nick at the free margin [55] 87.5% (7 patients)…”

Section: Genodermatosis Trichoscopic or Onychoscopic Findings Our Fin...mentioning

confidence: 99%

Dermoscopic Patterns of Genodermatoses: A Comprehensive Analysis

Plázár,

Meznerics,

Pálla

et al. 2023

Biomedicines

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(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.

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Section: Genodermatosis Trichoscopic or Onychoscopic Findings Our Fin...mentioning

confidence: 99%

Dermoscopic Patterns of Genodermatoses: A Comprehensive Analysis

Plázár,

Meznerics,

Pálla

et al. 2023

Biomedicines

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“…The hair shafts show elliptical nodes separated by abnormally narrow intermodal segments. There are two modes of inheritance: autosomal dominant and autosomal recessive [1,2] . There is no cure for monilethrix.…”

Section: Introductionmentioning

confidence: 99%

Gene detection in a family with monilethrix and observation of the treatment effect with 5% topical minoxidil

Shen

et al. 2022

Preprint

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Objective To determine the causative gene mutation in a family with monilethrix and observe the therapeutic effect of minoxidil topical, 5% liniment. 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 genome-wide exome sequencing and verified by Sanger sequencing. The proband was treated with minoxidil topical, 5% liniment (1mL 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 9 of the KRT86 gene. However, the mutation was not found in the mother and healthy controls. The proband was treated with minoxidil topical, 5% liniment. Hair density and hair shaft quality improved significantly after six months of treatment. No adverse events occurred during treatment. Conclusion This study shows that p.E402K is a mutation “hotspot” in patients with autosomal dominant monilethrix in China. Treatment with topical minoxidil, 5% liniment, is safe and effective.

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“…The hair shafts show elliptical nodes separated by abnormally narrow intermodal segments. There are two modes of inheritance: autosomal dominant and autosomal recessive 1,2 . There is no cure for monilethrix.…”

Section: Introductionmentioning

confidence: 99%

“…There are two modes of inheritance: autosomal dominant and autosomal recessive. 1 , 2 There is no cure for monilethrix. Reduction in hairdressing trauma may diminish weathering and improve severely affected cases.…”

Section: Introductionmentioning

confidence: 99%

Gene detection in a family with monilethrix and treatment with 5% topical minoxidil

Shen

et al. 2022

Skin Research and Technology

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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.

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Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families

Cited by 5 publications

References 18 publications

Dermoscopic Patterns of Genodermatoses: A Comprehensive Analysis

Dermoscopic Patterns of Genodermatoses: A Comprehensive Analysis

Gene detection in a family with monilethrix and observation of the treatment effect with 5% topical minoxidil

Gene detection in a family with monilethrix and treatment with 5% topical minoxidil

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