Two Cases of Autosomal Recessive Woolly Hair/Hypotrichosis with <i>LIPH </i>Gene Mutations

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  • LIPH 遺伝子変異を認めた常染色体劣性縮毛症/乏毛症の 2 例

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<p>A 3-year-old boy (case 1) and a 13-year-old girl (case 2) were referred to our hospital for woolly and sparse hair. We suspected autosomal recessive woolly hair/hypotrichosis, and performed direct sequencing analysis of the LIPH gene using peripheral blood-derived genomic DNA from both patients after receiving informed consent. As a result, compound heterozygous missense mutations, c.736T＞A (p.Cys246Ser) and c.742C＞A (p.His248Asn), in exon 6 of the LIPH gene were found in both patients. Although they had identical mutations, case 1 exhibited woolly and sparse hair on his entire scalp, whereas case 2 had sparse hair, especially on the occipital, frontal, and temporal regions of the scalp. Differences in genetic background, such as variants in modier genes or differences in single nucleotide polymorphisms in the hair follicles, may have affected the severity. Skin Research, 18 : 283-288, 2019 </p>

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  • Hifu no kagaku

    Hifu no kagaku 18 (5), 283-288, 2019

    Meeting of Osaka Dermatological Association/Meeting of Keiji Dermatological Association

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