A case of dyskeratosis congenita with squamous cell carcinoma of the maxilla: A case report and review of the literature


Dyskeratosis congenita (DC) is commonly diagnosed clinically with three classic findings of 1) oral leukoplakia, 2) nail dystrophy, and 3) abnormal skin pigmentation. It is commonly associated with bone marrow failure, increased predisposition for malignancies and a variety of additional somatic features. Nearly 70% of patients with DC present with oral leukoplakia, a lesion with up to a 34% chance of malignant transformation [5,13]. Although oral squamous cell carcinoma (OSCC) is the most common malignant transformation of long-standing leukoplakia, a limited number of cases have been reported in patients with DC. Most of which, involved the tongue and buccal mucosa. A retrospective chart review and literature review of DC and OSCC was completed for this article. We present a patient with DC who presented with OSCC involving the maxilla. The patient underwent a partial maxillectomy, skin grafting and obturator placement. There was no evidence of recurrence or new disease at the 15-month mark. OSCC in patients with DC is uncommon, but with close surveillance and thorough oral cavity examinations by a health professional, malignant transformations can be detected and treated at an early stage.


  • Oral malignant transformation in dyskeratosis congenita.

  • Oral manifestation of dyskeratosis congenita.

  • Oral squamous cell carcinoma associated with dyskeratosis congenita.

  • Rare oral malignancies associated with dyskeratosis congenita.

  • Incidence of oral cancer in rare diseases.


Initially referred to as Zinsser-Cole-Engman syndrome, dyskeratosis congenita (DC) is diagnosed clinically with the classic triad of skin findings: 1) nail dystrophy 2) abnormal skin pigmentation and 3) oral leukoplakia. It is a rare inherited disorder that affects approximately 1 in 1 million people, and associated with bone marrow failure, increased risk for malignancy and additional somatic abnormalities. Severity of the disorder and its phenotypic features depend on genetic penetrance with the most severe variants associated with the greatest reduction in telomere length [ ]. As a result, the true prevalence of the DC is unknown.

Although having the classic triad can assist with a diagnosis of DC without genetic testing, individuals often do not have all three features upon presentation. In a review that included 550 cases, only 75% of patients had at least one of the three classic manifestations, with 46% having all three findings [ ]. Additional somatic features that are less common include pancytopenia, epiphora, dental caries, periodontitis, premature hair loss and graying of hair, enteropathy/enterocolitis and many more [ ]. With relation to dental and oral findings, a cohort of 17 patients with DC demonstrated common clinical findings of oral leukoplakia, decreased crown/root ratio, and mild taurodontism [ ].

When treating patients with DC, a thorough family history, review of medical history, and physical examination should be completed to document the features of DC. In addition, these patients will benefit from close surveillance for additional clinical manifestations that may occur at later stages in life including cancer and organ dysfunction. With the advent of genetic testing, identification of shared genetic mutations can assist with the diagnosis of less penetrant features in family members .

Oral leukoplakia or erythroleukoplakia increases risk for malignancy, particularly, epithelioid carcinomas. As a result, it is recommended that patients with DC have close surveillance by their medical practitioner in the case that a referral is indicated for a biopsy to rule out malignancy. Squamous cell carcinoma is the most common malignant transformation resulting from longstanding oral leukoplakia [ , ]. Although oral leukoplakia may be identified in nearly 70% of patients with DC, only a few cases have been reported with malignant transformation [ ]. Based on a 2015 systematic review, the estimated overall mean malignant transformation rate of oral leukoplakia in patients with DC ranged from 0.13% to 34% [ ]. Not surprisingly, this is due to the variance in biological behavior based on the clinical characteristics (thin, thick/homogenous, granular, verruciform, and erythroleukoplakic) of the lesion [ ]. In our literature search, only five cases of squamous cell carcinoma of the tongue and one affecting the buccal mucosa were reported in patients with DC [ ]. Here, we describe an adult patient with clinically diagnosed DC without prior genetic testing, who presented with squamous cell carcinoma of the maxilla. Reported cases of OSCC in patients with DC is uncommon, and involvement of the maxilla is even more rare.

Materials and methods

A retrospective chart review was completed. Based on a review of regulations by the University of Alabama at Birmingham Institutional Review Board for Human Use (IRB), the study is deemed exempt and is in compliance with the Helsinki Declaration. A PubMed search performed on August 2019 for the key words “dyskeratosis congenita”, “oral cancer”, and “squamous cell carcinoma” resulted in six case reports of patients with DC and diagnosed oral squamous cell carcinoma (OSCC). Five cases involved the tongue and one involved the buccal mucosa [ ]. None identified tumors arising from the jaws or facial skeleton. In our case report, we present a rare case of squamous carcinoma involving the maxilla in an adult patient with clinically diagnosed DC.

Case report


We present a 36-year-old male with clinically diagnosed DC in 2008. The patient did not have prior genetic testing for DC mutations, but has the classic triad of DC: 1) dysplastic nails, 2) lacy reticular pigmentation of the skin involving his neck and upper chest, and 3) oral leukoplakia ( Figs. 1 and 2 ). In addition, he has other features of DC which includes: 1) a history of multiple squamous cell carcinoma (SCC) involving the gluteal cleft, peri-rectal, perineum, scrotum, and inguinal crease, 2) epiphora, 3) thrombocytopenia, and 4) periodontal disease. No direct family members have been genetically tested for DC. The patient has a brother with clinical findings of dysplastic nails, periodontal disease and alopecia. Both parents did not have features of DC that were reported, and he does not have any children. He is a former pipe smoker and does not consume alcohol or use illicit drugs.

Fig. 1
Lacy reticular pigmentation on neck.

Mar 3, 2020 | Posted by in Oral and Maxillofacial Surgery | Comments Off on A case of dyskeratosis congenita with squamous cell carcinoma of the maxilla: A case report and review of the literature
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