Article Details

2016 | January-March | Issue1
CASE REPORT
Dyskeratosis Congenita: A Rare Case
Rajat Chopra, Mitesh Thakkar, Jaishree Ghanekar
Author Affiliation
Rajat Chopra : MGM Medical College and Hospital Navi Mumbai-410209, Maharashtra, India

Mitesh Thakkar : MGM Medical College and Hospital Navi Mumbai-410209, Maharashtra, India

Jaishree Ghanekar : MGM Medical College and Hospital Navi Mumbai-410209, Maharashtra, India

10.5005/jp-journals-10036-1085

ABSTRACT

Dyskeratosis congenita (DKC) is a rare genodermatosis which exhibits oral leukoplakia, nail dystrophy, and reticular skin pigmentations as its primary features. Dyskeratosis congenita has increased risk of developing constitutional anemia and malignancies and early diagnosis enables the patient to be monitored and proper interventional therapy to be instituted. Here, we present an interesting and rare case report of DKC. Very few are being reported in our country and we, as physicians, should be aware of DKC, presenting as pyrexia, and anemia.

Keywords: Dyskeretosis congenita, Leukoplakia, Pancytopenia, Telomere.

How to cite this article: Chopra R, Thakkar M, Ghanekar J. Dyskeratosis Congenita: A Rare Case. MGM J Med Sci 2015;3(1):42-44.

Source of support: MGMIHS

Conflict of interest: None

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