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CASE REPORT
Year : 2020  |  Volume : 8  |  Issue : 4  |  Page : 206-208

A petit telomere – A catalyst for bone marrow failure


Department of General Medicine, Victoria Hospital, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India

Correspondence Address:
Dr. G Madhu
S/O Gangadharachar, C/O Mahesh Building, City Co Operative Society Road Corner, Hosaline Road, Hassan - 573 201, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/AJIM.AJIM_56_19

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Dyskeratosis congenita (DC) is a rare inherited disorder estimated to affect 1 in 1 million people characterized by rapidly depleting telomere length causing premature apoptosis or senescence results in progressive bone marrow failure. It is also known as Zinsser–Engman–Cole syndrome, and it was first described in 1906. The classic triads of DC include reticulated skin hyperpigmentation, nail dystrophy, and oral leukoplakia. Here, we report a case of a 20-year-old female presented with anemia symptoms and, on evaluation, diagnosed as bone marrow failure secondary to DC.


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