A Familial Case of Multiple Trichilemmal Cysts with Leukonychia and Koilonychia

DOI
  • TANAKA Yasuyuki
    Department of Dermatology, National Hospital Organization Osaka Minami Medical Center
  • UEHARA Shinji
    Department of Dermatology, National Hospital Organization Osaka Minami Medical Center
  • KUSUTANI Nao
    Department of Dermatology, Osaka City University Graduate School of Medicine
  • NOMA Naoki
    Department of Dermatology, Osaka City University Graduate School of Medicine
  • YONEZAWA Eri
    Department of Dermatology, Osaka City University Graduate School of Medicine
  • OSAKO Junko
    Department of Dermatology, Osaka City University Graduate School of Medicine
  • OZAWA Toshiyuki
    Department of Dermatology, Osaka City University Graduate School of Medicine
  • TSURUTA Daisuke
    Department of Dermatology, Osaka City University Graduate School of Medicine

Bibliographic Information

Other Title
  • Leukonychia（白色爪）および Koilonychia（匙状爪）を伴った多発性 Trichilemmal cyst の家族例

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Description

A 75-year-old man (case 1) and his 46-year-old son (case 2) presented with multiple diffuse subcutaneous tumors. Finger and toe leukonychia and koilonychia were observed in both on the first presentation to our hospital. In case 1, we excised 6 subcutaneous tumors from the head, trunk, and thigh. Based on histopathological findings, 2 were diagnosed as trichilemmal cysts (TCs) and 4 as proliferating trichilemmal cysts (PTC). In case 2, 2 subcutaneous tumors were excised from the back and right forearm, and both were diagnosed as TCs. The occurrence of familial multiple TCs with leukonychia and koilonychia is a rare autosomal dominant condition, and has been reported in 8 families. The molecular basis and candidate gene in this disorder remain unknown. Herein, we report a 4-generation family history of leukonychia and koilonychia associated with multiple TCs, appearing as an autosomal dominant trait.Skin Research, 16: 328-336, 2017

Journal

  • Hifu no kagaku

    Hifu no kagaku 16 (5), 328-336, 2017

    Meeting of Osaka Dermatological Association/Meeting of Keiji Dermatological Association

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