Dyskeratosis congenita: a case report





Dyskeratosis congenita, Hereditary, Bone marrow failure


Dyskeratosis congenita is a rare hereditary disorder characterized by skin pigmentation, nail dystrophy and leukoplakia along with bone marrow failure and increased predisposition to malignant tumours. Here we describe a 7-year-old child who presented with classic triad of pigmentation, nail changes, leukoplakia along with manifestations of bone marrow failure. He was initially put on androgen therapy with plan for a possible matched related allogenic HSCT. A haematologist should be aware of the complications of therapy, bronchopulmonary complications, futility of IST and dangers of using myeloablative transplant in such a patient.

Author Biography

Basab Bagchi, Department of Haematology/Medical Oncology, CNCI, Kolkata, West Bengal, India

Associate Professor

Haematology/Medical Oncology


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Case Reports