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Background <p>Dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome caused by defective telomere maintenance. It often presents with mucocutaneous features, cytopenias, and progressive organ involvement, but remains underrecognized in resource-limited settings.</p> Case presentation <p>We report a 32-year-old Indonesian male of Javanese ethnicity who presented with progressive anemia, thrombocytopenia, and bilateral hip pain. Physical examination revealed long-standing reticulate hyperpigmentation and premature graying. Bone marrow evaluation showed aplastic anemia, requiring periodical packed red cells transfusions. Telomere length testing demonstrated markedly shortened telomeres, and genetic analysis identified a heterozygous TERC mutation (n.269G &gt; C) in both the patient and his mother. The patient also developed avascular necrosis of both hips, requiring bilateral hip replacement.</p> Conclusion <p>This case highlights the importance of considering telomere biology disorders such as DC in patients with unexplained cytopenias and premature aging features. Early recognition is essential to guide appropriate management and avoid potentially harmful therapies, particularly in resource-limited settings where these conditions may be underrecognized.</p>

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Late-onset dyskeratosis congenita due to a TERC (n.269G > C) variant—first reported case from Indonesia: a case report

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年4月11日

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  • Benedreky Leo,
  • Intan Hartandy,
  • Susanna Hilda Hutajulu,
  • Mardiah Suci Hardianti,
  • Kartika Widayati,
  • Johan Kurnianda,
  • Ibnu Purwanto

摘要

Background

Dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome caused by defective telomere maintenance. It often presents with mucocutaneous features, cytopenias, and progressive organ involvement, but remains underrecognized in resource-limited settings.

Case presentation

We report a 32-year-old Indonesian male of Javanese ethnicity who presented with progressive anemia, thrombocytopenia, and bilateral hip pain. Physical examination revealed long-standing reticulate hyperpigmentation and premature graying. Bone marrow evaluation showed aplastic anemia, requiring periodical packed red cells transfusions. Telomere length testing demonstrated markedly shortened telomeres, and genetic analysis identified a heterozygous TERC mutation (n.269G > C) in both the patient and his mother. The patient also developed avascular necrosis of both hips, requiring bilateral hip replacement.

Conclusion

This case highlights the importance of considering telomere biology disorders such as DC in patients with unexplained cytopenias and premature aging features. Early recognition is essential to guide appropriate management and avoid potentially harmful therapies, particularly in resource-limited settings where these conditions may be underrecognized.