Dyskeratosis congenita: a case report
DOI:
https://doi.org/10.18203/2349-3291.ijcp20223069Keywords:
Dyskeratosis congenita, Hereditary, Bone marrow failureAbstract
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.
References
Dokal I. Dyskeratosis congenita in all its forms. Br J Haematol. 2000;110(4):768-79.
Savage SA, Alter VP. Dyskeratosis congenita. Hematol Oncol Clin N Am. 2009;23(2):215-31.
Dror Y. Inherited Bone Marrow Failure Syndromes. Haematology basic principles and practice. 7th ed. Philadelphia, USA. Elsevier. 2013.
Walne AJ, Dokal I. Advances in the understanding of dyskeratosis congenita. Br J Haematol. 2009;145(2):164-72.
Kirwan M, Dokal I. Dyskeratosis congenita, stem cells and telomeres. Biochim Biophys Acta. 2009;1792(4):371-9.
Savage SA. Dyskeratosis Congenita. Gene Reveiws. 2013;NBK22301.
Knight S, Vulliamy T, Copplestone A, Glukman E, Dokal I. Dyskeratosis Congenita (DC) Registry: identification of new features of DC. Br J Haematol. 2002;103(4):990-6.
Atkinson JC, Harvey KE, Domingo DL, Trujillo E, Guadagnini JP, Gollins S et al. Oral and dental phenotype of Dyskeratosis Congenita. Oral Dis. 2008;14(5):419-27.
Alter BP, Giri N, Savage SA, Rosenberg PS. Cancer in dyskeratosis congenita. Blood. 2009;113:6549.
