Clinical manifestation and genetic analysis of familial rare disease genodermatosis xeroderma pigmentosum

DOI Web Site 参考文献21件
  • Yuniati Renni
    Department Dermatology and Venereology, Faculty of Medicine, Diponegoro University, Semarang, Indonesia/Dr. Kariadi General Hospital Semarang, Indonesia.
  • Sihombing Nydia Rena Benita
    Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine, Diponegoro University/Diponegoro National University Hospital, Semarang, Indonesia.
  • Nauphar Donny
    Department of Biomedical Science, Universitas Swadaya Gunung Jati, Cirebon, Indonesia.
  • Tiawarman Budi
    Bojonggambir Health Center, Tasik Malaya, Indonesia.
  • Kartikasari Diah Shinta
    Department Dermatology and Venereology, Faculty of Medicine, Diponegoro University, Semarang, Indonesia/Dr. Kariadi General Hospital Semarang, Indonesia.
  • Dewi Meira
    Department of Anatomical Pathology, Faculty of Medicine, Diponegoro University, Semarang, Indonesia/Dr. Kariadi General Hospital Semarang, Indonesia.
  • Faradz Sultana MH
    Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine, Diponegoro University/Diponegoro National University Hospital, Semarang, Indonesia.

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<p>Xeroderma pigmentosum (XP) is a rare autosomal recessive disease characterized by hypersensitivity of the skin to ultraviolet radiation and other carcinogenic agents. This ailment is characterized by increased photosensitivity, skin xerosis, early skin aging, actinic keratosis, erythematous lesions, and hyperpigmentation macules. In this serial case report, we presented four cases with XP from two families in Indonesia. Both families were referred from rural referral health centers, and each family has two affected siblings. They had freckle-like pigmentation on the face, trunk, and extremities, which progressed since childhood. One patient of family 2 died because of an infectious disease. Histopathological examination using cytokeratine (CK), CD10, and Ber-EP4 staining from available tissue biopsy of one affected case of family 1 identified basal cell carcinoma (BCC) on the cheek and melanoma on the right eye. Mutation analysis found ERCC2, c2047C>T and XPC, c1941T>A in the first and second families, respectively. We suppose that this is the first case report of XP in Indonesia that incorporates clinical examination, genetic analysis, and extensive histopathological examination, including immunohistochemistry staining, and a novel pathogenic variant of XPC was found in the second family. </p>

収録刊行物

  • Intractable & Rare Diseases Research

    Intractable & Rare Diseases Research 10 (2), 114-121, 2021-05-31

    特定非営利活動法人 バイオ＆ソーシャル・サイエンス推進国際研究交流会

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