Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the LIPH gene: a case report

Abstract

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.

Keywords

• Hypotrichosis
• Lipase H
• woolly hair
• autosomal recessive