Dyskeratosis congenita: a case report on a rare disease Authors Sehar Khaliq Foundation University Islamabad/ Fauji Foundation Hospital Rawalpindi Syed Kumail Hasan Kazmi Foundation University Medical College, Rawalpindi, Pakistan DOI: https://doi.org/10.47391/JPMA.045 Abstract Abstract Dyskeratosis congenita is a very rare inherited haematological disorder characterised by a classical clinical triad of leukoplakia, skin pigmentation and dystrophied nails. Here is a case of a young patient who presented with brittle nails, lacy hyperpigmentation of the skin and leukoplakia along with pancytopenia. Haematopoietic stem cell transplantation is the only cure for this disease but due to financial constraints of the family it was not possible. The patient was placed on androgen therapy and showed favourable response but later was lost to follow-up. Keywords: Dyskeratosis Congenita, Pancytopenia, Continuous... Downloads Full Text Article Published 2020-11-11 How to Cite Khaliq, S., & Syed Kumail Hasan Kazmi. (2020). Dyskeratosis congenita: a case report on a rare disease. Journal of the Pakistan Medical Association, 71(3), 1–10. https://doi.org/10.47391/JPMA.045 More Citation Formats ACM ACS APA ABNT Chicago Harvard IEEE MLA Turabian Vancouver Download Citation Endnote/Zotero/Mendeley (RIS) BibTeX Issue Vol. 71 No. 3 (2021): MARCH Section CASE REPORT License Copyright (c) 2020 Journal of the Pakistan Medical Association This work is licensed under a Creative Commons Attribution 4.0 International License.