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Dyskeratosis Congenita and Oral Cavity Squamous Cell Carcinoma

Report of a Case and Literature Review

Trott, Kiley E. MD*; Briddell, Jenna W. MD; Corao-Uribe, Diana MD; Powell, Jonathan MD§,∥; Seecof, Olivia M. BS; Levy, Carly MD§,¶,#; Miller, Elissa G. MD§,¶,#; Shah, Udayan K. MD*,†,§

Journal of Pediatric Hematology/Oncology: August 2019 - Volume 41 - Issue 6 - p 501–503
doi: 10.1097/MPH.0000000000001478
Clinical and Laboratory Observations

Dyskeratosis congenita is a rare genetic condition of telomerase dysfunction in which patients are at an increased risk of squamous cell carcinoma (SCCa) of the oral cavity. We present here the youngest patient in the literature with a diagnosis of SCCa. We discuss the literature and management of this advanced presentation of SCCa in a child, stressing the importance of palliative care involvement in facilitating medical decision making.

Departments of *Otolaryngology


Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA

Department of Pathology

Division of Otolaryngology

Division of Hematology/Oncology

#Division of Palliative Medicine, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE

Presented as a poster at the Annual Meeting of the American Society of Pediatric Otolaryngology, Austin, TX, May 18, 2017.

The authors declare no conflict of interest.

Reprints: Udayan K. Shah, MD, Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803 (e-mail:

Received February 20, 2018

Accepted January 27, 2019

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