Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome?

    July 2004 in “ Pediatric dermatology
    Zülal Erbağcı, İbrahim Erbağcı, Hülya Erbağcı … A. Almila Tuncel
    Studysummary This case study describes a 9-year-old boy with monilethrix and associated abnormalities, suggesting a new, severe autosomal recessive variant termed "monilethrix syndrome.
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    Research cited in this study 5

    1. 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
    2. Evidence for Genetic Heterogeneity in Monilethrix Journal of Investigative Dermatology · 1996
    3. Monilethrix Treated with Oral Retinoids Clinical and experimental dermatology · 1991
    4. Topical Minoxidil in Monilethrix Dermatology · 1991
    5. Monilethrix: An Ultrastructural Study Journal of Cutaneous Pathology · 1984