A Case of Fabry Disease Diagnosed by Electron Microscopy of a Blind Skin Biopsy

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  • ISHIMOTO Tatsushi
    Department of Dermatology, Kochi Medical School, Kochi University
  • NAKAJIMA Kimiko
    Department of Dermatology, Kochi Medical School, Kochi University
  • TERAUCHI Yoshihiko
    Department of Pediatrics, Kochi Medical School, Kochi University
  • ISHIHARA Masayuki
    Department of Pediatrics, Kochi Medical School, Kochi University
  • FUJIEDA Mikiya
    Department of Pediatrics, Kochi Medical School, Kochi University
  • KUBO Toru
    Department of Cardiology, Neurology and Aging Science, Kochi Medical School, Kochi University
  • SANO Shigetoshi
    Department of Dermatology, Kochi Medical School, Kochi University

Bibliographic Information

Other Title
  • Blind Biopsy の電子顕微鏡所見で診断した Fabry 病
  • 症例 Blind Biopsyの電子顕微鏡所見で診断したFabry病
  • ショウレイ Blind Biopsy ノ デンシ ケンビキョウ ショケン デ シンダン シタ Fabryビョウ

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Abstract

<p>We describe a case of a 15-year-old man complaining of limb pain and hypohidrosis. He began experiencing the pain at 11 years old, and it gradually became stronger. Although he had no skin lesions typical of Fabry disease, we decided to perform a blind skin biopsy on his buttock for diagnostic purposes. The findings of light microscopy revealed the presence of some vacuoles in the secretory unit of the eccrine sweat glands in the deep dermis. Electron microscopy demonstrated the presence of some electron-dense lamellar inclusions in the cytoplasm of endothelial cells. His α-galactosidase A activity was below the normal range. Taken together, we diagnosed classic Fabry disease. His mother also had hypohidrosis, progressive sensorineural deafness, and abnormal findings on electrocardiography. Since both of them showed the same mutation of the α-galactosidase A gene (exon 7, C. 1212-1214 del AAG), they were diagnosed as Fabry disease. Here, we showed that electron microscopy of a blind biopsy is a useful tool for the diagnosis of Fabry disease. We should now examine which part of the skin is the most appropriate location for performing blind biopsy on patients with suspected Fabry disease.</p>

Journal

  • Nishi Nihon Hifuka

    Nishi Nihon Hifuka 78 (6), 608-612, 2016

    Western Division of Japanese Dermatological Association

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