2020
DOI: 10.1159/000505134
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Unusual Clinical Presentation of Autosomal Recessive Woolly Hair

Abstract: Autosomal recessive woolly hair/hypotrichosis (ARWH/H) is a rare nonsyndromic hair abnormality characterized by sparse, short, and curly hair. we report a case of a 5-year-old girl from consanguineous parents, who presented with ARWH/H since birth. Dermoscopic findings showed thin sparse hair. Genetic testing showed homozygous mutation in the <i>LPAR6</i> gene.

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