European Journal of Biomedical and Pharmaceutical Sciences

DYSKERATOSIS CONGENITA: CASE SERIES AND LITERATURE REVIEW

Dr. Pragya Agarwal*, Dr. Freny Karjodkar and Dr. Kaustubh Sansare

ABSTRACT

Dyskeratosis congenita (DC) is complex, multisystem inherited disorder which classically presents as a triad of abnormal skin hyperpigmentation, nail dystrophy and oral leukoplakia. Oral physicians may be the first to see and diagnose DC and have important role in monitoring the oral malignant changes in white keratotic plaque in oral cavity. Aim of this paper is to present four rare and unique cases of DC with classic triad which are described in two females and two male patients. One of the females had squamous cell carcinoma of right buccal vestibule. Also this paper reports comparative assessment of different global DC cohorts. India has been consistently underrepresented in these cohorts. This is one of the first reported cases of oral squamous cell carcinoma (SCC) in DC in Indian population. It contributes in increasing awareness that tobacco use acts as a complicating factor for oral SCC in Indian DC patients and its use should be discouraged. Its presence in DC reflects that leukoplakic lesion needs to be closely monitored for carcinoma.

Keywords: Dyskeratosis congenita, Oral squamous cell carcinoma, DC cohorts.