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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 LPAR6 gene.

SUBMITTER: Alsharif O

PROVIDER: S-EPMC7109382 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature

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Unusual Clinical Presentation of Autosomal Recessive Woolly Hair.

Alsharif Osama O Ahmed Azhar Abbas AA Alali Azhar Mohammed AM Kaki Adnan Ahmed AA

Skin appendage disorders 20200117 2

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. ...[more]

PMID: 32258056

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Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair/hypotrichosis in Japan and the genotype/phenotype correlations.

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| S-EPMC2874739 | biostudies-literature

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