The Hair Loss Encyclopedia

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

Image of study

TLDR A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.

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

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