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...

Published

2020-11-11

Issue

Section

Case Report