Monilethrix In Monozygotic Twins With Very Rare Mutation In KRT 86 Gene

    March 2017 in “ Journal of the European Academy of Dermatology and Venereology ”
    Bogusław Nedoszytko, Zuzanna Lewicka-Potocka, Aneta Szczerkowska‐Dobosz … Roman Nowicki
    Studysummary This article reviews genetic mutations linked to monilethrix, a hereditary hair disorder, and reports no new clinical findings on the condition's variability in symptoms and severity.
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    Research cited in this study 8

    1. Monilethrix: A Typical Case Report with Microscopic and Dermatoscopic Findings Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia · 2015
    2. Novel KRT83 and KRT86 Mutations Associated with Monilethrix Experimental Dermatology · 2015
    3. A Novel Monilethrix Mutation in Coil 2A of KRT86 Causing Autosomal Dominant Monilethrix with Incomplete Penetrance British Journal of Dermatology · 2012
    4. A Case of Monilethrix Caused by Novel Compound Heterozygous Mutations in the Desmoglein 4 (DSG4) Gene British Journal of Dermatology · 2011
    5. An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2006
    6. Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix Journal of Investigative Dermatology · 1999
    7. Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype Journal of Investigative Dermatology · 1999
    8. A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1 Journal of Investigative Dermatology · 1998