Khalid Alwunais, Jamal Alqahtani, Abdullah Ali N Aljalfan, Hadeel Alotaibi
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Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the LIPH gene: a case report.
Autosomal recessive woolly hair/hypotrichosis (ARWH/H) is a hereditary hair disorder characterized by sparse, short, and curly hair. Mutations in the Lipase H (LIPH) gene, LPAR6, or other genes cause this hereditary hair condition. We report a case of an 11-month-old Saudi boy who presented to our dermatology clinic at King Fahad University Hospital in Al-Khobar (Saudi Arabia) with short, non-growing hair since birth. DNA sequencing revealed a homozygous mutation in the LIPH gene at c.280_369dup. Our patient was diagnosed with ARWH/H resulting from a homozygous mutation in LIPH.
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