TLDR A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
This case report describes an 11-month-old Saudi boy diagnosed with autosomal recessive woolly hair/hypotrichosis (ARWH/H), a hereditary hair disorder characterized by sparse, short, and curly hair. The diagnosis was confirmed through DNA sequencing, which identified a homozygous mutation in the LIPH gene at c.280_369dup. This mutation is responsible for the boy's hair condition, highlighting the genetic basis of ARWH/H linked to mutations in the LIPH gene.
May 2024 in “Frontiers in medicine” A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.
50 citations
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February 2016 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
1 citations
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August 2011 in “Dermatology Reports” Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.
46 citations
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August 2003 in “The journal of investigative dermatology/Journal of investigative dermatology” Phosphatidic acid may help hair grow by affecting cell growth pathways.
12 citations
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July 2016 in “British journal of dermatology/British journal of dermatology, Supplement” Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.
26 citations
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December 2011 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
February 2023 in “Journal of dermatology” The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
9 citations
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February 2018 in “The Journal of Dermatology” A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
May 2024 in “Frontiers in medicine” A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.
