Dyskeratosis congenita: a case report on a rare disease

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 leukopl...

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Bibliographic Details
Main Authors: Sehar Khaliq, Syed Kumail Hasan Kazmi
Format: Article
Language:English
Published: Pakistan Medical Association 2020-11-01
Series:Journal of the Pakistan Medical Association
Online Access:https://www.ojs.jpma.org.pk/index.php/public_html/article/view/2042
Description
Summary: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...
ISSN:0030-9982