A petit telomere - A catalyst for bone marrow failure
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 fir...
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| Main Authors: | , |
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| Format: | Book |
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Wolters Kluwer Medknow Publications,
2020-01-01T00:00:00Z.
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| Summary: | 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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| Item Description: | 2666-1802 2666-1810 10.4103/AJIM.AJIM_56_19 |