Case Report: Exploring Autosomal Recessive Woolly Hair: Genetic and Scanning Electron Microscopic Perspectives on a Japanese Patient

    May 2024 in “ Frontiers in medicine ”
    Satoko Minakawa, Yasushi Matsuzaki, Toshihide Higashino … Daisuke Sawamura
    Studysummary In this study, a 3-year-old Japanese child with autosomal recessive woolly hair was found to have a distinctive irregular and rough cuticle on the hair shaft, along with a homozygous pathogenic LIPH variant, suggesting a critical role for genetic analysis in understanding rare hair conditions.
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    Research cited in this study 3

    1. A Homozygous Missense Variant in Type I Keratin KRT25 Causes Autosomal Recessive Woolly Hair Journal of Medical Genetics · 2015
    2. Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations PloS one · 2014
    3. Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH Science · 2006