Dyskeratosis Congenita and Oral Cavity Squamous Cell Carcinoma: Report of a Case and Literature Review

Abstract

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.

Systemic conditions associated with increased risk to develop oral squamous cell carcinoma: Systematic review and meta‐analysis

“…Eighteen studies evaluated national databases from Japan, 19 United States, 20,21 Denmark, 22 Taiwan, 23,24 and South Korea 25,26 . Fifty‐nine articles were case reports, 27–85 7 case series, 86–92 17 cross‐sectional, 19,21–26,93–102 and 2 case–control study 103,104 . One study 20 presented two different cohorts (retrospective and prospective case–control).…”

Dyskeratosis Congenita and Squamous Cell Cancer of the Head and Neck: A Case Report and Systematic Review

“…We found a total of 12 other case reports of patients with DC and SCC of the head and neck, excluding cutaneous malignancies. [5][6][7][8][9][10][11][12][13][14][15][16] To our knowledge, this is the largest systematic review of this patient population. Of note, most of the cases involved SCC of the tongue; this is the only case that reports on sequential osteocutaneous free tissue transfers.…”

Malignant Transformation of Buccal Mucosa Leukoplakia in a Patient With Dyskeratosis Congenita

“…Patients with DC have potential risks of bone marrow failure, aplastic anemia, myelodysplastic syndrome, leukemia, and other cancers including oral SCC. 6 Dyskeratosis congenita occurs mostly in males and clinically manifests between 5 and 12 years. 8 Nail dystrophy and skin pigmentation appear first by the age of 10 years, and leukoplakia and epiphora develop later.…”

“…4 It is characterized by 3 features: nail dystrophy, reticular skin pigmentation, and oral leukoplakia. 1,5,6 Leukoplakia is usually oral, but sometimes conjunctival, urethral, genital, or intestinal. 5,7 Oral leukoplakia in patients with DC has a high risk of malignant transformation.…”

“…9 In recent systematic review and meta-analysis, the malignant transformation rate of oral leukoplakia was 9.5%, 9 whereas approximately 30% of the leukoplakic areas progress to malignant transformation with the development of SCC in 10 to 50 years. 1,2,4-8,10 The most common site of oral SCC is the tongue, 1-3,5-7,10 followed by the buccal mucosa. 3 Therefore, frequent monitoring and biopsy of suspicious areas to detect possible oral cancer are necessary.…”