Certified Pediatric Hematology Oncology Nurse (CPHON) 2025 – 400 Free Practice Questions to Pass the Exam

Dyskeratosis Congenita is primarily characterized by progressive bone marrow failure, which is a critical aspect of the condition. This failure occurs due to the underlying genetic defects affecting the maintenance of telomeres, leading to impaired hematopoiesis. As the bone marrow fails to produce sufficient blood cells, patients can experience various hematological issues, including anemia, leukopenia, and thrombocytopenia.

While skin pigment changes (option A) can be associated with Dyskeratosis Congenita, they are not the hallmark feature of the disease and can also be seen in other conditions. Kidney malformation (option C) and hypertrophic cardiomyopathy (option D) are not typical manifestations of Dyskeratosis Congenita, making them less relevant in the context of its primary characteristics. Therefore, the emphasis on progressive bone marrow failure highlights the most significant clinical aspect of Dyskeratosis Congenita, which is crucial for its identification and management.