Dyskeratosis Congenita in a Child: A Case of Severe Pancytopenia with Ophthalmologic Involvement

Dyskeratosis congenita is a rare genetic disorder related to defective telomere maintenance, classically characterized by a clinical triad consisting of skin pigmentation, mucosal leukoplakia, and nail dystrophy. Diagnosis is often challenging in pediatric patients, as clinical features may be incomplete. Disease progression is frequently complicated by bone marrow failure, as well as pulmonary, hepatic, and ophthalmologic involvement, and an increased risk of malignancies. We report the case of a 5-year-old girl presenting with hemorrhagic manifestations, severe pancytopenia, and clinical features suggestive of dyskeratosis congenita. Diagnosis was primarily based on clinical and hematologic evaluation in the absence of available genetic testing. Early recognition allows appropriate management and regular monitoring for complications. Keywords: Dyskeratosis congenita; telomeropathy; bone marrow failure; pancytopenia; child; case report