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, Tamio Suzuki, Hirofumi Tomita, Eijiro Akasaka, Daisuke Sawamura

autosomal recessive woolly hair ARWH scanning electron microscopy SEM LIPH gene homozygous pathogenic variant hair shaft cuticles woolly hair genetic analysis

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. Our plain-language summary of this paper — not a Tressless recommendation.

This case report examines a 3-year-old Japanese patient with autosomal recessive woolly hair (ARWH), characterized by tightly curled hair that stops growing at a few inches. Scanning electron microscopy (SEM) revealed irregular and rough cuticles with small projections and grooves on the hair shaft. Genetic analysis identified a homozygous pathogenic variant (c.736 T > A; Cys246Ser) in the LIPH gene. Additionally, three other cases with the same homozygous variant and one case with compound heterozygous variants in LIPH were identified, highlighting the importance of genetic analysis for understanding ARWH in the Japanese population.

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research A Homozygous Missense Variant in Type I Keratin KRT25 Causes Autosomal Recessive Woolly Hair

29 citations , July 2015 in “Journal of Medical Genetics”

This study identified a new gene involved in woolly hair by linking a homozygous variant in KRT25 to autosomal recessive woolly hair in two Pakistani families.

research Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations

15 citations , February 2014 in “PloS one”

This study identified two prevalent and one newly proposed founder LIPH mutations in Japanese patients with autosomal recessive woolly hair/hypotrichosis and associated these mutations with different severities of hair loss.

research Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH

194 citations , November 2006 in “Science”

This study identified a gene mutation in the LIPH gene associated with inherited hair loss and hair growth defects in certain populations, suggesting lipase H plays a role in hair development.