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A rare case report of zinsser–engman–cole syndrome: A hereditary cause of aplastic anemia

 Department of General Medicine, Gandhi Medical College, Secunderabad, Telangana, India

Correspondence Address:
CH Harshika,
Room Number 28, Fourth Floor, OP Building, Gandhi Hospital, Secunderabad - 500 025, Telangana
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ajim.ajim_74_22

Dyskeratosis congenita (DC), also known as Zinsser–Engman–Cole syndrome, is a rare cause of hereditary aplastic anemia. Here, we report a case of a 31-year-old male who presented with complaints of shortness of breath and recurrent episodes of fever for 4 months. Other features on examination include pallor, nail dystrophy, thinning and loss of nails, hypopigmentation of skin on the back, and leukoplakia on the tongue. On evaluation, peripheral smear revealed pancytopenia with reduced precursors. Bone marrow studies revealed hypocellular bone marrow with no fibrosis. Diagnosis of DC was made based on the clinical triad of nail changes, skin changes, and leukoplakia along with bone marrow findings. The patient was given supportive management and prophylaxis for febrile neutropenia and was advised allogeneic hematopoietic stem-cell transplant in the further course. It is important to diagnose early because there is a high predisposition to solid tumors and hematologic malignancies.

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    -  Harshika C H
    -  Kumar L S
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